Linked Data
dbSNP Id:
rs779794484
ExAC:
8:37823802 G / T
gnomAD v2:
8-37823802-G-T
gnomAD v4:
8-37966284-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37966284G>T , CM000670.2:g.37966284G>T | GRCh38 |
| NC_000008.10:g.37823802G>T , CM000670.1:g.37823802G>T | GRCh37 |
| NC_000008.9:g.37942959G>T | NCBI36 |
| NG_011936.1:g.5383C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000345060.5:c.186C>A MANE Select | ENSP00000343782.3:p.Ile62= | |
| ENST00000520341.2:n.314C>A | ||
| ENST00000345060.4:c.186C>A | ENSP00000343782.3:p.Ile62= | |
| ENST00000614635.1:c.186C>A | ENSP00000480325.1:p.Ile62= | |
| NM_000025.2:c.186C>A | NP_000016.1:p.Ile62= | |
| NM_000025.3:c.186C>A MANE Select | NP_000016.1:p.Ile62= |