Linked Data
ClinVar Variation Id:
1397
dbSNP Id:
rs75895925
ExAC:
14:88903909 C / T
gnomAD v2:
14-88903909-C-T
gnomAD v3:
14-88437565-C-T
gnomAD v4:
14-88437565-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.88437565C>T , CM000676.2:g.88437565C>T | GRCh38 |
| NC_000014.8:g.88903909C>T , CM000676.1:g.88903909C>T | GRCh37 |
| NC_000014.7:g.87973662C>T | NCBI36 |
| NG_021183.1:g.56922C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393545.9:c.1183C>T MANE Select | ENSP00000377176.4:p.Arg395Ter | |
| ENST00000045347.11:c.1183C>T | ENSP00000045347.7:p.Arg395Ter | |
| ENST00000356583.9:c.1087C>T | ENSP00000348991.5:p.Arg363Ter | |
| ENST00000393545.8:c.1183C>T | ENSP00000377176.4:p.Arg395Ter | |
| ENST00000553303.1:n.613C>T | ||
| ENST00000553626.5:n.2962C>T | ||
| ENST00000554802.1:c.79C>T | ENSP00000451019.1:p.Arg27Ter | |
| ENST00000556406.5:c.156C>T | ||
| ENST00000556553.5:c.1087C>T | ENSP00000451128.1:p.Arg363Ter | |
| ENST00000556666.5:n.1730C>T | ||
| NM_001040428.3:c.1087C>T | NP_001035518.1:p.Arg363Ter | |
| NM_018418.4:c.1183C>T | NP_060888.2:p.Arg395Ter | |
| XM_005267851.1:c.1186C>T | XP_005267908.1:p.Arg396Ter | |
| XM_005267852.1:c.1090C>T | XP_005267909.1:p.Arg364Ter | |
| XM_005267854.1:c.994C>T | XP_005267911.1:p.Arg332Ter | |
| XM_005267855.1:c.994C>T | XP_005267912.1:p.Arg332Ter | |
| XM_006720204.1:c.1186C>T | XP_006720267.1:p.Arg396Ter | |
| XM_006720205.1:c.1186C>T | XP_006720268.1:p.Arg396Ter | |
| XM_011536951.1:c.1033C>T | XP_011535253.1:p.Arg345Ter | |
| XM_011536952.1:c.1015C>T | XP_011535254.1:p.Arg339Ter | |
| XM_011536953.1:c.868C>T | XP_011535255.1:p.Arg290Ter | |
| XM_005267852.2:c.1090C>T | XP_005267909.1:p.Arg364Ter | |
| XM_017021452.1:c.1030C>T | XP_016876941.1:p.Arg344Ter | |
| XM_017021453.1:c.994C>T | XP_016876942.1:p.Arg332Ter | |
| XM_017021454.1:c.991C>T | XP_016876943.1:p.Arg331Ter | |
| XM_017021455.1:c.991C>T | XP_016876944.1:p.Arg331Ter | |
| XM_017021456.1:c.991C>T | XP_016876945.1:p.Arg331Ter | |
| XM_017021457.1:c.865C>T | XP_016876946.1:p.Arg289Ter | |
| XM_024449660.1:c.1012C>T | XP_024305428.1:p.Arg338Ter | |
| XR_002957563.1:n.1364C>T | ||
| NM_018418.5:c.1183C>T MANE Select | NP_060888.2:p.Arg395Ter | |
| NM_001040428.4:c.1087C>T | NP_001035518.1:p.Arg363Ter |