Linked Data
ClinVar Variation Id:
540050
ClinVar RCV Id:
RCV000649973
dbSNP Id:
rs1035033414
gnomAD v2:
14-105180625-C-T
gnomAD v3:
14-104714288-C-T
gnomAD v4:
14-104714288-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.104714288C>T , CM000676.2:g.104714288C>T | GRCh38 |
| NC_000014.8:g.105180625C>T , CM000676.1:g.105180625C>T | GRCh37 |
| NC_000014.7:g.104251670C>T | NCBI36 |
| NG_027684.1:g.29683C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392634.9:c.3126C>T MANE Select | ENSP00000376410.4:p.Ser1042= | |
| ENST00000617571.5:c.3122C>T | ENSP00000483829.2:p.Ala1041Val | |
| ENST00000674520.1:c.3121C>T | ENSP00000502593.1:n.3121C>T | |
| ENST00000674631.1:c.1164C>T | ENSP00000502830.1:p.Ser388= | |
| ENST00000674662.1:c.3130C>T | ENSP00000501895.1:n.3130C>T | |
| ENST00000674757.1:c.3131C>T | ENSP00000502202.1:p.Ala1044Val | |
| ENST00000674822.1:c.3010C>T | ENSP00000501552.1:n.3010C>T | |
| ENST00000674846.1:c.3121C>T | ENSP00000502431.1:n.3121C>T | |
| ENST00000674857.1:c.3115C>T | ENSP00000501687.1:n.3115C>T | |
| ENST00000674960.1:c.2984C>T | ENSP00000501841.1:n.2984C>T | |
| ENST00000674991.1:c.2376C>T | ENSP00000502004.1:p.Ser792= | |
| ENST00000675207.1:c.3222C>T | ENSP00000502644.1:p.Ser1074= | |
| ENST00000675329.1:c.3102C>T | ENSP00000502287.1:p.Ser1034= | |
| ENST00000675481.1:c.3126C>T | ENSP00000502723.1:p.Ser1042= | |
| ENST00000675583.1:c.3055C>T | ENSP00000501740.1:n.3055C>T | |
| ENST00000675603.1:n.366C>T | ||
| ENST00000675638.1:c.3045C>T | ENSP00000501647.1:p.Ser1015= | |
| ENST00000675724.1:c.3064C>T | ENSP00000502576.1:n.3064C>T | |
| ENST00000675771.1:c.2389C>T | ENSP00000502104.1:n.2389C>T | |
| ENST00000675797.1:c.2531C>T | ENSP00000502023.1:n.2531C>T | |
| ENST00000675809.1:c.3181C>T | ENSP00000502587.1:n.3181C>T | |
| ENST00000675930.1:c.3126C>T | ENSP00000502456.1:p.Ser1042= | |
| ENST00000675980.1:c.3144C>T | ENSP00000502520.1:p.Ser1048= | |
| ENST00000676016.1:c.3025C>T | ENSP00000502412.1:n.3025C>T | |
| ENST00000676366.1:c.3126C>T | ENSP00000501605.1:p.Ser1042= | |
| ENST00000252527.8:c.1530C>T | ENSP00000252527.8:p.Ser510= | |
| ENST00000330634.11:c.3126C>T | ENSP00000376406.3:p.Ser1042= | |
| ENST00000392634.8:c.3126C>T | ENSP00000376410.4:p.Ser1042= | |
| ENST00000617571.4:c.-1008C>T | ENSP00000483829.1:n.-1008C>T | |
| NM_001031714.3:c.3126C>T | NP_001026884.3:p.Ser1042= | |
| NM_022489.3:c.3126C>T | NP_071934.3:p.Ser1042= | |
| XM_005268004.3:c.3222C>T | XP_005268061.1:p.Ser1074= | |
| XM_005268005.3:c.3222C>T | XP_005268062.1:p.Ser1074= | |
| XR_943507.1:n.3351C>T | ||
| XM_005268004.4:c.3222C>T | XP_005268061.1:p.Ser1074= | |
| XM_005268005.4:c.3222C>T | XP_005268062.1:p.Ser1074= | |
| XM_017021595.1:c.3222C>T | XP_016877084.1:p.Ser1074= | |
| NM_001031714.4:c.3126C>T | NP_001026884.3:p.Ser1042= | |
| NM_022489.4:c.3126C>T MANE Select | NP_071934.3:p.Ser1042= |