Linked Data
ClinVar Variation Id:
1455511
ClinVar RCV Id:
RCV001946634
dbSNP Id:
rs773055266
ExAC:
4:119649794 A / G
gnomAD v2:
4-119649794-A-G
gnomAD v3:
4-118728639-A-G
gnomAD v4:
4-118728639-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.118728639A>G , CM000666.2:g.118728639A>G | GRCh38 |
| NC_000004.11:g.119649794A>G , CM000666.1:g.119649794A>G | GRCh37 |
| NC_000004.10:g.119869242A>G | NCBI36 |
| NG_042032.1:g.112533T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000280551.11:c.2880T>C MANE Select | ENSP00000280551.6:p.Pro960= | |
| ENST00000280551.10:c.2880T>C | ENSP00000280551.6:p.Pro960= | |
| ENST00000502830.1:n.209T>C | ||
| ENST00000505134.5:n.3011T>C | ||
| ENST00000511481.5:c.1773T>C | ENSP00000425491.1:p.Pro591= | |
| NM_014822.2:c.2880T>C | NP_055637.2:p.Pro960= | |
| XM_005263378.1:c.2883T>C | XP_005263435.1:p.Pro961= | |
| XM_005263379.1:c.2883T>C | XP_005263436.1:p.Pro961= | |
| XM_011532435.1:c.2883T>C | XP_011530737.1:p.Pro961= | |
| XM_011532437.1:c.1548T>C | XP_011530739.1:p.Pro516= | |
| NM_001318066.1:c.2883T>C | NP_001304995.1:p.Pro961= | |
| NM_014822.3:c.2880T>C | NP_055637.2:p.Pro960= | |
| XM_005263379.3:c.2883T>C | XP_005263436.1:p.Pro961= | |
| XM_017008875.1:c.1548T>C | XP_016864364.1:p.Pro516= | |
| XM_024454293.1:c.2880T>C | XP_024310061.1:p.Pro960= | |
| NM_014822.4:c.2880T>C MANE Select | NP_055637.2:p.Pro960= | |
| NM_001318066.2:c.2883T>C | NP_001304995.1:p.Pro961= |