Linked Data
dbSNP Id:
rs191802172
ExAC:
7:21934537 G / T
gnomAD v2:
7-21934537-G-T
gnomAD v4:
7-21894919-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21894919G>T , CM000669.2:g.21894919G>T | GRCh38 |
| NC_000007.13:g.21934537G>T , CM000669.1:g.21934537G>T | GRCh37 |
| NC_000007.12:g.21901062G>T | NCBI36 |
| NG_012886.2:g.356705G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.12969G>T MANE Select | ENSP00000475939.1:p.Gln4323His | |
| ENST00000328843.10:c.12990G>T | ENSP00000330671.7:p.Gln4330His | |
| ENST00000409508.7:c.12969G>T | ENSP00000475939.1:p.Gln4323His | |
| ENST00000479878.1:n.340G>T | ||
| ENST00000620169.4:c.12990G>T | ENSP00000481693.1:p.Gln4330His | |
| NM_001277115.1:c.12969G>T | NP_001264044.1:p.Gln4323His | |
| NM_001277115.2:c.12969G>T MANE Select | NP_001264044.1:p.Gln4323His |