Linked Data
ClinVar Variation Id:
2965041
ClinVar RCV Id:
RCV003823207
dbSNP Id:
rs766073909
ExAC:
9:130578301 G / A
gnomAD v2:
9-130578301-G-A
gnomAD v3:
9-127816022-G-A
gnomAD v4:
9-127816022-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127816022G>A , CM000671.2:g.127816022G>A | GRCh38 |
| NC_000009.11:g.130578301G>A , CM000671.1:g.130578301G>A | GRCh37 |
| NC_000009.10:g.129618122G>A | NCBI36 |
| NG_009551.1:g.43747C>T , LRG_589:g.43747C>T | |
| NG_023245.1:g.18148G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480266.6:c.1227C>T | ENSP00000479015.1:p.Ala409= | |
| ENST00000373203.9:c.1773C>T MANE Select | ENSP00000362299.4:p.Ala591= | |
| ENST00000344849.4:c.1773C>T | ENSP00000341917.3:p.Ala591= | |
| ENST00000373203.8:c.1773C>T | ENSP00000362299.4:p.Ala591= | |
| ENST00000480266.5:c.1227C>T | ENSP00000479015.1:p.Ala409= | |
| NM_000118.3:c.1773C>T , LRG_589t1:c.1773C>T | NP_000109.1:p.Ala591= | |
| NM_001114753.2:c.1773C>T , LRG_589t2:c.1773C>T | NP_001108225.1:p.Ala591= | |
| NM_001278138.1:c.1227C>T | NP_001265067.1:p.Ala409= | |
| NM_001114753.3:c.1773C>T MANE Select | NP_001108225.1:p.Ala591= | |
| NM_001278138.2:c.1227C>T | NP_001265067.1:p.Ala409= |