Linked Data
dbSNP Id:
rs778128598
ExAC:
14:101200650 G / T
gnomAD v2:
14-101200650-G-T
gnomAD v3:
14-100734313-G-T
gnomAD v4:
14-100734313-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.100734313G>T , CM000676.2:g.100734313G>T | GRCh38 |
| NC_000014.8:g.101200650G>T , CM000676.1:g.101200650G>T | GRCh37 |
| NC_000014.7:g.100270403G>T | NCBI36 |
| NG_016863.2:g.12449G>T | |
| NG_016863.3:g.12449G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341267.9:c.569G>T MANE Select | ENSP00000340292.4:p.Gly190Val | |
| ENST00000331224.10:c.569G>T | ENSP00000331081.6:p.Gly190Val | |
| ENST00000341267.8:c.569G>T | ENSP00000340292.4:p.Gly190Val | |
| NM_003836.5:c.569G>T | NP_003827.3:p.Gly190Val | |
| NM_001317172.1:c.569G>T | NP_001304101.1:p.Gly190Val | |
| NM_003836.6:c.569G>T | NP_003827.3:p.Gly190Val | |
| NM_001317172.2:c.569G>T | NP_001304101.2:p.Gly190Val | |
| NM_003836.7:c.569G>T MANE Select | NP_003827.4:p.Gly190Val |