Linked Data
ClinVar Variation Id:
2704812
ClinVar RCV Id:
RCV003594986
dbSNP Id:
rs767752804
ExAC:
9:137623429 G / A
gnomAD v2:
9-137623429-G-A
gnomAD v4:
9-134731583-G-A
COSMIC:
COSM1201925
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134731583G>A , CM000671.2:g.134731583G>A | GRCh38 |
| NC_000009.11:g.137623429G>A , CM000671.1:g.137623429G>A | GRCh37 |
| NC_000009.10:g.136763250G>A | NCBI36 |
| NG_008030.1:g.94778G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371820.4:c.1252G>A | ENSP00000360885.4:p.Asp418Asn | |
| ENST00000371817.8:c.1252G>A MANE Select | ENSP00000360882.3:p.Asp418Asn | |
| ENST00000371817.7:c.1252G>A | ENSP00000360882.3:p.Asp418Asn | |
| ENST00000618395.4:c.1252G>A | ENSP00000481360.1:p.Asp418Asn | |
| NM_000093.4:c.1252G>A | NP_000084.3:p.Asp418Asn | |
| NM_001278074.1:c.1252G>A | NP_001265003.1:p.Asp418Asn | |
| XR_929712.1:n.1654G>A | ||
| XR_929713.1:n.1654G>A | ||
| XM_017014266.2:c.1252G>A | XP_016869755.1:p.Asp418Asn | |
| XR_001746183.1:n.1650G>A | ||
| NM_000093.5:c.1252G>A MANE Select | NP_000084.3:p.Asp418Asn |