Linked Data
dbSNP Id:
rs13010343
gnomAD v2:
2-191843445-G-A
gnomAD v3:
2-190978719-G-A
gnomAD v4:
2-190978719-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.190978719G>A , CM000664.2:g.190978719G>A | GRCh38 |
| NC_000002.11:g.191843445G>A , CM000664.1:g.191843445G>A | GRCh37 |
| NC_000002.10:g.191551690G>A | NCBI36 |
| NG_008294.1:g.40532C>T , LRG_111:g.40532C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698141.1:c.1873+137C>T | ENSP00000513582.1:n.1873+137C>T | |
| ENST00000698142.1:c.1813+137C>T | ENSP00000513583.1:n.1813+137C>T | |
| ENST00000698143.1:n.3746+137C>T | ||
| ENST00000698144.1:c.*1199+137C>T | ENSP00000513584.1:n.*1199+137C>T | |
| ENST00000698145.1:c.634-8970C>T | ENSP00000513585.1:n.634-8970C>T | |
| ENST00000698146.1:c.*1623+137C>T | ENSP00000513586.1:n.*1623+137C>T | |
| ENST00000698147.1:n.3393+137C>T | ||
| ENST00000698148.1:n.3723+137C>T | ||
| ENST00000698149.1:c.1873+137C>T | ENSP00000513587.1:n.1873+137C>T | |
| ENST00000698150.1:n.111C>T | ||
| ENST00000361099.8:c.1873+137C>T MANE Select | ENSP00000354394.4:n.1873+137C>T | |
| ENST00000415035.2:c.1873+137C>T | ENSP00000388240.2:n.1873+137C>T | |
| ENST00000423282.2:c.129-1694C>T | ENSP00000388772.2:n.129-1694C>T | |
| ENST00000452281.6:c.*1199+137C>T | ENSP00000394512.1:n.*1199+137C>T | |
| ENST00000540176.6:c.1873+137C>T | ENSP00000438703.2:n.1873+137C>T | |
| ENST00000673734.1:c.*1040+137C>T | ENSP00000501040.1:n.*1040+137C>T | |
| ENST00000673762.1:n.372+137C>T | ||
| ENST00000673777.1:c.1867+137C>T | ENSP00000500982.1:n.1867+137C>T | |
| ENST00000673816.1:c.1873+137C>T | ENSP00000501127.1:n.1873+137C>T | |
| ENST00000673832.1:n.425+137C>T | ||
| ENST00000673841.1:c.1873+137C>T | ENSP00000501225.1:n.1873+137C>T | |
| ENST00000673847.1:c.1873+137C>T | ENSP00000501185.1:n.1873+137C>T | |
| ENST00000673858.1:c.*1199+137C>T | ENSP00000501196.1:n.*1199+137C>T | |
| ENST00000673863.1:c.582+137C>T | ENSP00000501286.1:n.582+137C>T | |
| ENST00000673885.1:c.*59+137C>T | ENSP00000501159.1:n.*59+137C>T | |
| ENST00000673942.1:c.1867+137C>T | ENSP00000501145.1:n.1867+137C>T | |
| ENST00000673952.1:c.1873+137C>T | ENSP00000501115.1:n.1873+137C>T | |
| ENST00000674028.1:n.311-1678C>T | ||
| ENST00000674080.1:c.1873+137C>T | ENSP00000501164.1:n.1873+137C>T | |
| ENST00000674081.1:c.1873+137C>T | ENSP00000501289.1:n.1873+137C>T | |
| ENST00000674153.1:c.1874-113C>T | ENSP00000501120.1:n.1874-113C>T | |
| ENST00000361099.7:c.1873+137C>T | ENSP00000354394.3:n.1873+137C>T | |
| ENST00000392322.7:c.1873+137C>T | ENSP00000376136.3:n.1873+137C>T | |
| ENST00000392323.6:c.1879+137C>T | ENSP00000376137.2:n.1879+137C>T | |
| ENST00000409465.5:c.1873+137C>T | ENSP00000386244.1:n.1873+137C>T | |
| ENST00000452281.5:c.*1199+137C>T | ENSP00000394512.1:n.*1199+137C>T | |
| ENST00000464072.1:n.637C>T | ||
| ENST00000540176.5:c.*1199+137C>T | ENSP00000438703.1:n.*1199+137C>T | |
| NM_007315.3:c.1873+137C>T , LRG_111t1:c.1873+137C>T | NP_009330.1:n.1873+137C>T | |
| NM_139266.2:c.1873+137C>T | NP_644671.1:n.1873+137C>T | |
| XM_006712718.1:c.1873+137C>T | XP_006712781.1:n.1873+137C>T | |
| XM_017004783.2:c.1879+137C>T | XP_016860272.1:n.1879+137C>T | |
| XR_001738914.2:n.2266+137C>T | ||
| XR_001738915.2:n.2208+137C>T | ||
| NM_007315.4:c.1873+137C>T MANE Select | NP_009330.1:n.1873+137C>T | |
| NM_001384880.1:c.1813+137C>T | NP_001371809.1:n.1813+137C>T | |
| NM_001384881.1:c.1879+137C>T | NP_001371810.1:n.1879+137C>T | |
| NM_001384882.1:c.1867+137C>T | NP_001371811.1:n.1867+137C>T | |
| NM_001384883.1:c.1774+137C>T | NP_001371812.1:n.1774+137C>T | |
| NM_001384884.1:c.1879+137C>T | NP_001371813.1:n.1879+137C>T | |
| NM_001384885.1:c.1714+137C>T | NP_001371814.1:n.1714+137C>T | |
| NM_001384886.1:c.1873+137C>T | NP_001371815.1:n.1873+137C>T | |
| NM_001384887.1:c.1780+137C>T | NP_001371816.1:n.1780+137C>T | |
| NM_001384888.1:c.1843+137C>T | NP_001371817.1:n.1843+137C>T | |
| NM_001384889.1:c.1873+137C>T | NP_001371818.1:n.1873+137C>T | |
| NM_001384890.1:c.1783+137C>T | NP_001371819.1:n.1783+137C>T | |
| NM_001384891.1:c.1909+137C>T | NP_001371820.1:n.1909+137C>T | |
| NM_139266.3:c.1873+137C>T | NP_644671.1:n.1873+137C>T |