Linked Data
ClinVar Variation Id:
489277
ClinVar RCV Id:
RCV000578887
dbSNP Id:
rs1554387469
gnomAD v4:
7-100112000-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100112000C>T , CM000669.2:g.100112000C>T | GRCh38 |
| NC_000007.13:g.99709623C>T , CM000669.1:g.99709623C>T | GRCh37 |
| NC_000007.12:g.99547559C>T | NCBI36 |
| NG_029454.1:g.12859G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000440225.6:c.721-1G>A | ENSP00000410012.2:n.721-1G>A | |
| ENST00000451699.6:c.721-1G>A | ENSP00000406315.2:n.721-1G>A | |
| ENST00000452438.7:c.664-1G>A | ENSP00000412346.3:n.664-1G>A | |
| ENST00000460673.3:c.721-1G>A | ENSP00000427710.3:n.721-1G>A | |
| ENST00000472509.6:c.721-1G>A | ENSP00000419760.2:n.721-1G>A | |
| ENST00000487288.2:n.1087-1G>A | ||
| ENST00000493322.6:c.721-1G>A | ENSP00000419555.2:n.721-1G>A | |
| ENST00000523306.6:c.721-1G>A | ENSP00000428639.2:n.721-1G>A | |
| ENST00000684938.1:c.*312-1G>A | ENSP00000509829.1:n.*312-1G>A | |
| ENST00000684951.1:n.1601-1G>A | ||
| ENST00000685054.1:n.1257-1G>A | ||
| ENST00000685258.1:n.1576-1G>A | ||
| ENST00000685280.1:c.721-1G>A | ENSP00000510209.1:n.721-1G>A | |
| ENST00000685713.1:c.611-1G>A | ENSP00000509921.1:n.611-1G>A | |
| ENST00000686096.1:c.*312-1G>A | ENSP00000510627.1:n.*312-1G>A | |
| ENST00000686141.1:c.721-1G>A | ENSP00000509002.1:n.721-1G>A | |
| ENST00000686172.1:c.691-1G>A | ENSP00000510809.1:n.691-1G>A | |
| ENST00000686580.1:c.721-1G>A | ENSP00000510270.1:n.721-1G>A | |
| ENST00000686777.1:c.721-1G>A | ENSP00000510166.1:n.721-1G>A | |
| ENST00000687137.1:c.721-1G>A | ENSP00000508432.1:n.721-1G>A | |
| ENST00000687151.1:c.691-1G>A | ENSP00000508852.1:n.691-1G>A | |
| ENST00000687216.1:c.664-1G>A | ENSP00000509789.1:n.664-1G>A | |
| ENST00000687410.1:c.721-1G>A | ENSP00000509158.1:n.721-1G>A | |
| ENST00000687447.1:c.721-1G>A | ENSP00000510217.1:n.721-1G>A | |
| ENST00000687641.1:n.757-1G>A | ||
| ENST00000687672.1:c.691-1G>A | ENSP00000509741.1:n.691-1G>A | |
| ENST00000687768.1:n.1030-1G>A | ||
| ENST00000687969.1:c.721-1G>A | ENSP00000508679.1:n.721-1G>A | |
| ENST00000688086.1:c.664-1G>A | ENSP00000510349.1:n.664-1G>A | |
| ENST00000688091.1:c.*312-1G>A | ENSP00000510079.1:n.*312-1G>A | |
| ENST00000688197.1:n.1047-1G>A | ||
| ENST00000688343.1:c.721-1G>A | ENSP00000508691.1:n.721-1G>A | |
| ENST00000688498.1:c.721-1G>A | ENSP00000510409.1:n.721-1G>A | |
| ENST00000688640.1:c.721-1G>A | ENSP00000509783.1:n.721-1G>A | |
| ENST00000688962.1:n.1810-1G>A | ||
| ENST00000689052.1:n.1424-1G>A | ||
| ENST00000689284.1:c.664-1G>A | ENSP00000509292.1:n.664-1G>A | |
| ENST00000689347.1:n.1952-1G>A | ||
| ENST00000689536.1:n.1257-1G>A | ||
| ENST00000689684.1:c.*312-1G>A | ENSP00000508474.1:n.*312-1G>A | |
| ENST00000689754.1:c.721-1G>A | ENSP00000509866.1:n.721-1G>A | |
| ENST00000689866.1:c.*312-1G>A | ENSP00000509889.1:n.*312-1G>A | |
| ENST00000690206.1:c.634-1G>A | ENSP00000508601.1:n.634-1G>A | |
| ENST00000690291.1:n.1467-1G>A | ||
| ENST00000690335.1:n.1806-1G>A | ||
| ENST00000690367.1:c.691-1G>A | ENSP00000509821.1:n.691-1G>A | |
| ENST00000690602.1:c.*312-1G>A | ENSP00000509383.1:n.*312-1G>A | |
| ENST00000690962.1:c.721-1G>A | ENSP00000509249.1:n.721-1G>A | |
| ENST00000691010.1:c.691-1G>A | ENSP00000509320.1:n.691-1G>A | |
| ENST00000691370.1:c.721-1G>A | ENSP00000509500.1:n.721-1G>A | |
| ENST00000691413.1:c.664-1G>A | ENSP00000509680.1:n.664-1G>A | |
| ENST00000691534.1:c.*312-1G>A | ENSP00000510612.1:n.*312-1G>A | |
| ENST00000691681.1:c.721-1G>A | ENSP00000509494.1:n.721-1G>A | |
| ENST00000692029.1:c.*312-1G>A | ENSP00000510260.1:n.*312-1G>A | |
| ENST00000692175.1:n.1467-1G>A | ||
| ENST00000692408.1:c.691-1G>A | ENSP00000508788.1:n.691-1G>A | |
| ENST00000692466.1:c.721-1G>A | ENSP00000509041.1:n.721-1G>A | |
| ENST00000692927.1:c.721-1G>A | ENSP00000509335.1:n.721-1G>A | |
| ENST00000693225.1:c.664-1G>A | ENSP00000510019.1:n.664-1G>A | |
| ENST00000693256.1:n.1180-1G>A | ||
| ENST00000693374.1:n.1055-1G>A | ||
| ENST00000453269.7:c.721-1G>A MANE Select | ENSP00000389575.2:n.721-1G>A | |
| ENST00000344095.8:c.721-1G>A | ENSP00000344537.4:n.721-1G>A | |
| ENST00000421980.5:c.*312-1G>A | ENSP00000413614.1:n.*312-1G>A | |
| ENST00000437822.6:c.832-1G>A | ENSP00000399982.2:n.832-1G>A | |
| ENST00000440225.5:c.664-1G>A | ENSP00000410012.1:n.664-1G>A | |
| ENST00000452041.5:c.721-1G>A | ENSP00000416396.1:n.721-1G>A | |
| ENST00000453269.6:c.721-1G>A | ENSP00000389575.2:n.721-1G>A | |
| ENST00000472509.5:c.892-1G>A | ENSP00000419760.1:n.892-1G>A | |
| ENST00000487288.1:n.1087-1G>A | ||
| ENST00000493322.5:c.721-1G>A | ENSP00000419555.1:n.721-1G>A | |
| NM_001190415.1:c.832-1G>A | NP_001177344.1:n.832-1G>A | |
| NM_005641.3:c.721-1G>A | NP_005632.1:n.721-1G>A | |
| NM_139315.2:c.721-1G>A | NP_647476.1:n.721-1G>A | |
| NR_033792.1:n.824-1G>A | ||
| XM_006716100.1:c.721-1G>A | XP_006716163.1:n.721-1G>A | |
| XM_006716101.1:c.691-1G>A | XP_006716164.1:n.691-1G>A | |
| XM_006716102.1:c.691-1G>A | XP_006716165.1:n.691-1G>A | |
| XM_011516542.1:c.691-1G>A | XP_011514844.1:n.691-1G>A | |
| XM_011516543.1:c.691-1G>A | XP_011514845.1:n.691-1G>A | |
| NM_001364998.1:c.721-1G>A | NP_001351927.1:n.721-1G>A | |
| NM_001364999.1:c.721-1G>A | NP_001351928.1:n.721-1G>A | |
| NM_001365000.1:c.691-1G>A | NP_001351929.1:n.691-1G>A | |
| NM_001365001.1:c.691-1G>A | NP_001351930.1:n.691-1G>A | |
| NM_001365002.1:c.691-1G>A | NP_001351931.1:n.691-1G>A | |
| NM_001365003.1:c.691-1G>A | NP_001351932.1:n.691-1G>A | |
| NM_001365004.1:c.859-1G>A | NP_001351933.1:n.859-1G>A | |
| XM_011516543.3:c.691-1G>A | XP_011514845.1:n.691-1G>A | |
| XM_024446896.1:c.721-1G>A | XP_024302664.1:n.721-1G>A | |
| XM_024446899.1:c.868-1G>A | XP_024302667.1:n.868-1G>A | |
| XM_024446900.1:c.721-1G>A | XP_024302668.1:n.721-1G>A | |
| NM_139315.3:c.721-1G>A MANE Select | NP_647476.1:n.721-1G>A | |
| NM_001190415.2:c.832-1G>A | NP_001177344.1:n.832-1G>A | |
| NM_005641.4:c.721-1G>A | NP_005632.1:n.721-1G>A | |
| NR_033792.2:n.810-1G>A |