Linked Data
ClinVar Variation Id:
211976
dbSNP Id:
rs556931606
ExAC:
6:57072449 G / A
gnomAD v2:
6-57072449-G-A
gnomAD v3:
6-57207651-G-A
gnomAD v4:
6-57207651-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.57207651G>A , CM000668.2:g.57207651G>A | GRCh38 |
| NC_000006.11:g.57072449G>A , CM000668.1:g.57072449G>A | GRCh37 |
| NC_000006.10:g.57180408G>A | NCBI36 |
| NG_012170.1:g.19630C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000468148.6:c.218C>T MANE Select | ENSP00000417610.1:p.Ala73Val | |
| ENST00000317483.4:c.218C>T | ENSP00000320413.3:p.Ala73Val | |
| ENST00000468148.5:c.218C>T | ENSP00000417610.1:p.Ala73Val | |
| NM_001278666.1:c.218C>T | NP_001265595.1:p.Ala73Val | |
| NM_001278667.1:c.218C>T | NP_001265596.1:p.Ala73Val | |
| NM_001278668.1:c.218C>T | NP_001265597.1:p.Ala73Val | |
| NM_016277.4:c.218C>T | NP_057361.3:p.Ala73Val | |
| NM_183227.2:c.218C>T | NP_899050.1:p.Ala73Val | |
| NR_103822.1:n.340+2575C>T | ||
| XM_005249179.2:c.218C>T | XP_005249236.1:p.Ala73Val | |
| NM_016277.5:c.218C>T MANE Select | NP_057361.3:p.Ala73Val | |
| NM_001278666.2:c.218C>T | NP_001265595.1:p.Ala73Val | |
| NM_001278667.2:c.218C>T | NP_001265596.1:p.Ala73Val | |
| NM_001278668.2:c.218C>T | NP_001265597.1:p.Ala73Val | |
| NM_183227.3:c.218C>T | NP_899050.1:p.Ala73Val | |
| NR_103822.2:n.333+2575C>T |