Linked Data
dbSNP Id:
rs748651103
ExAC:
6:167754700 G / A
gnomAD v2:
6-167754700-G-A
gnomAD v3:
6-167341212-G-A
gnomAD v4:
6-167341212-G-A
COSMIC:
COSM4737319
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.167341212G>A , CM000668.2:g.167341212G>A | GRCh38 |
| NC_000006.11:g.167754700G>A , CM000668.1:g.167754700G>A | GRCh37 |
| NC_000006.10:g.167674690G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000239587.10:c.1312G>A MANE Select | ENSP00000239587.5:p.Asp438Asn | |
| ENST00000649884.1:c.1093G>A | ENSP00000497040.1:p.Asp365Asn | |
| ENST00000239587.9:c.1312G>A | ENSP00000239587.5:p.Asp438Asn | |
| ENST00000515138.1:c.1312G>A | ENSP00000424130.1:p.Asp438Asn | |
| NM_031949.4:c.1312G>A | NP_114155.4:p.Asp438Asn | |
| XM_006715572.2:c.1093G>A | XP_006715635.1:p.Asp365Asn | |
| XM_006715572.4:c.1093G>A | XP_006715635.1:p.Asp365Asn | |
| NM_031949.5:c.1312G>A MANE Select | NP_114155.4:p.Asp438Asn |