Linked Data
ClinVar Variation Id:
715306
ClinVar RCV Id:
RCV000887753
dbSNP Id:
rs766051954
ExAC:
11:62677730 G / A
gnomAD v2:
11-62677730-G-A
gnomAD v3:
11-62910258-G-A
gnomAD v4:
11-62910258-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.62910258G>A , CM000673.2:g.62910258G>A | GRCh38 |
| NC_000011.9:g.62677730G>A , CM000673.1:g.62677730G>A | GRCh37 |
| NC_000011.8:g.62434306G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306960.4:c.843C>T MANE Select | ENSP00000306490.3:p.Asp281= | |
| ENST00000306960.3:c.843C>T | ENSP00000306490.3:p.Asp281= | |
| ENST00000543973.1:c.843C>T | ENSP00000441188.1:p.Asp281= | |
| NM_000738.2:c.843C>T | NP_000729.2:p.Asp281= | |
| XM_011544742.1:c.843C>T | XP_011543044.1:p.Asp281= | |
| XM_011544742.2:c.843C>T | XP_011543044.1:p.Asp281= | |
| XR_002957251.1:n.151-345G>A | ||
| NM_000738.3:c.843C>T MANE Select | NP_000729.2:p.Asp281= |