Linked Data
dbSNP Id:
rs11624704
gnomAD v2:
14-78786077-A-C
gnomAD v3:
14-78319734-A-C
gnomAD v4:
14-78319734-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.78319734A>C , CM000676.2:g.78319734A>C | GRCh38 |
| NC_000014.8:g.78786077A>C , CM000676.1:g.78786077A>C | GRCh37 |
| NC_000014.7:g.77855830A>C | NCBI36 |
| NG_052991.1:g.154362A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000335750.7:c.757+21874A>C MANE Select | ENSP00000338349.7:n.757+21874A>C | |
| ENST00000553363.6:c.48+21874A>C | ||
| ENST00000634499.2:c.769+19043A>C | ENSP00000488920.2:n.769+19043A>C | |
| ENST00000553363.5:c.50+21874A>C | ||
| ENST00000554738.5:c.751+19043A>C | ENSP00000450683.1:n.751+19043A>C | |
| ENST00000556088.1:n.249+21874A>C | ||
| ENST00000634499.1:c.751+19043A>C | ENSP00000488920.1:n.751+19043A>C | |
| ENST00000635466.1:c.757+21874A>C | ENSP00000489551.1:n.757+21874A>C | |
| NR_073547.1:n.1756+19043A>C | ||
| XM_005268218.2:c.769+19043A>C | XP_005268275.1:n.769+19043A>C | |
| XM_006720322.2:c.757+21874A>C | XP_006720385.1:n.757+21874A>C | |
| XM_006720323.2:c.757+21874A>C | XP_006720386.1:n.757+21874A>C | |
| XM_011537363.1:c.769+19043A>C | XP_011535665.1:n.769+19043A>C | |
| XM_011537364.1:c.769+19043A>C | XP_011535666.1:n.769+19043A>C | |
| XM_011537365.1:c.769+19043A>C | XP_011535667.1:n.769+19043A>C | |
| XM_011537366.1:c.769+19043A>C | XP_011535668.1:n.769+19043A>C | |
| XM_011537367.1:c.769+19043A>C | XP_011535669.1:n.769+19043A>C | |
| XM_011537368.1:c.769+19043A>C | XP_011535670.1:n.769+19043A>C | |
| XM_011537369.1:c.769+19043A>C | XP_011535671.1:n.769+19043A>C | |
| XM_011537370.1:c.769+19043A>C | XP_011535672.1:n.769+19043A>C | |
| XM_011537371.1:c.769+19043A>C | XP_011535673.1:n.769+19043A>C | |
| XM_011537372.1:c.769+19043A>C | XP_011535674.1:n.769+19043A>C | |
| XM_011537373.1:c.769+19043A>C | XP_011535675.1:n.769+19043A>C | |
| XM_011537374.1:c.769+19043A>C | XP_011535676.1:n.769+19043A>C | |
| XM_011537375.1:c.769+19043A>C | XP_011535677.1:n.769+19043A>C | |
| XM_011537376.1:c.769+19043A>C | XP_011535678.1:n.769+19043A>C | |
| XR_943561.1:n.1774+19043A>C | ||
| XR_943562.1:n.1774+19043A>C | ||
| XR_943563.1:n.1774+19043A>C | ||
| NM_001330195.1:c.757+21874A>C | NP_001317124.1:n.757+21874A>C | |
| NM_001366425.1:c.757+21874A>C | NP_001353354.1:n.757+21874A>C | |
| NM_001366426.1:c.769+19043A>C | NP_001353355.1:n.769+19043A>C | |
| NR_158973.1:n.1774+19043A>C | ||
| NR_158974.1:n.1762+21874A>C | ||
| NR_158975.1:n.1774+19043A>C | ||
| XM_005268218.3:c.769+19043A>C | XP_005268275.1:n.769+19043A>C | |
| XM_011537364.2:c.769+19043A>C | XP_011535666.1:n.769+19043A>C | |
| XM_011537365.2:c.769+19043A>C | XP_011535667.1:n.769+19043A>C | |
| XM_017021790.1:c.769+19043A>C | XP_016877279.1:n.769+19043A>C | |
| XM_017021791.1:c.769+19043A>C | XP_016877280.1:n.769+19043A>C | |
| XM_017021792.1:c.757+21874A>C | XP_016877281.1:n.757+21874A>C | |
| XM_017021793.1:c.769+19043A>C | XP_016877282.1:n.769+19043A>C | |
| XM_017021794.1:c.757+21874A>C | XP_016877283.1:n.757+21874A>C | |
| XM_017021796.2:c.769+19043A>C | XP_016877285.1:n.769+19043A>C | |
| XM_017021797.1:c.709+75932A>C | XP_016877286.1:n.709+75932A>C | |
| XM_017021798.1:c.757+21874A>C | XP_016877287.1:n.757+21874A>C | |
| XM_017021799.2:c.769+19043A>C | XP_016877288.1:n.769+19043A>C | |
| XM_017021800.1:c.769+19043A>C | XP_016877289.1:n.769+19043A>C | |
| XM_017021801.1:c.769+19043A>C | XP_016877290.1:n.769+19043A>C | |
| XM_017021804.1:c.769+19043A>C | XP_016877293.1:n.769+19043A>C | |
| XM_017021805.1:c.757+21874A>C | XP_016877294.1:n.757+21874A>C | |
| XM_017021807.1:c.769+19043A>C | XP_016877296.1:n.769+19043A>C | |
| XM_024449750.1:c.769+19043A>C | XP_024305518.1:n.769+19043A>C | |
| XM_024449751.1:c.757+21874A>C | XP_024305519.1:n.757+21874A>C | |
| XM_024449752.1:c.757+21874A>C | XP_024305520.1:n.757+21874A>C | |
| XM_024449753.1:c.757+21874A>C | XP_024305521.1:n.757+21874A>C | |
| XR_001750599.1:n.1774+19043A>C | ||
| XR_001750600.1:n.1774+19043A>C | ||
| XR_001750602.1:n.1774+19043A>C | ||
| XR_001750604.1:n.1774+19043A>C | ||
| XR_001750605.1:n.1774+19043A>C | ||
| XR_001750606.1:n.1774+19043A>C | ||
| XR_001750607.1:n.1774+19043A>C | ||
| XR_001750609.1:n.1774+19043A>C | ||
| XR_001750610.1:n.1774+19043A>C | ||
| XR_002957572.1:n.1774+19043A>C | ||
| XR_943563.2:n.1774+19043A>C | ||
| NM_001330195.2:c.757+21874A>C MANE Select | NP_001317124.1:n.757+21874A>C | |
| NR_073547.2:n.1756+19043A>C |