Linked Data
ClinVar Variation Id:
429611
ClinVar RCV Id:
RCV000493719
dbSNP Id:
rs750075208
ExAC:
11:67803783 G / A
gnomAD v2:
11-67803783-G-A
gnomAD v4:
11-68036316-G-A
COSMIC:
COSM931175
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68036316G>A , CM000673.2:g.68036316G>A | GRCh38 |
| NC_000011.9:g.67803783G>A , CM000673.1:g.67803783G>A | GRCh37 |
| NC_000011.8:g.67560359G>A | NCBI36 |
| NG_007878.1:g.2301G>A , LRG_115:g.2301G>A | |
| NG_017040.1:g.10700G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313468.10:c.436G>A MANE Select | ENSP00000315774.5:p.Asp146Asn | |
| ENST00000313468.9:c.436G>A | ENSP00000315774.5:p.Asp146Asn | |
| ENST00000524810.5:c.368G>A | ||
| ENST00000525419.5:c.382G>A | ENSP00000433521.1:p.Asp128Asn | |
| ENST00000526339.5:c.436G>A | ENSP00000436287.1:p.Asp146Asn | |
| ENST00000526446.5:c.*491G>A | ENSP00000433645.1:n.*491G>A | |
| ENST00000528492.1:c.-3G>A | ENSP00000432848.1:n.-3G>A | |
| ENST00000531282.1:n.288G>A | ||
| NM_002496.3:c.436G>A | NP_002487.1:p.Asp146Asn | |
| XM_005274013.1:c.436G>A | XP_005274070.1:p.Asp146Asn | |
| XM_005274014.1:c.436G>A | XP_005274071.1:p.Asp146Asn | |
| XM_005274015.1:c.316G>A | XP_005274072.1:p.Asp106Asn | |
| XM_011545053.1:c.436G>A | XP_011543355.1:p.Asp146Asn | |
| NM_002496.4:c.436G>A MANE Select | NP_002487.1:p.Asp146Asn |