Linked Data
ClinVar Variation Id:
3012770
ClinVar RCV Id:
RCV003877881
dbSNP Id:
rs1201878733
gnomAD v2:
6-108202411-G-A
gnomAD v3:
6-107881207-G-A
gnomAD v4:
6-107881207-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.107881207G>A , CM000668.2:g.107881207G>A | GRCh38 |
| NC_000006.11:g.108202411G>A , CM000668.1:g.108202411G>A | GRCh37 |
| NC_000006.10:g.108309104G>A | NCBI36 |
| NG_008270.1:g.82072C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369002.9:c.1877C>T MANE Select | ENSP00000357998.4:p.Ala626Val | |
| ENST00000369002.8:c.1877C>T | ENSP00000357998.4:p.Ala626Val | |
| ENST00000465210.1:n.169C>T | ||
| ENST00000473746.1:n.524C>T | ||
| NM_007214.4:c.1877C>T | NP_009145.1:p.Ala626Val | |
| XM_011535399.1:c.1709C>T | XP_011533701.1:p.Ala570Val | |
| XM_017010218.2:c.779C>T | XP_016865707.1:p.Ala260Val | |
| NM_007214.5:c.1877C>T MANE Select | NP_009145.1:p.Ala626Val |