Linked Data
ClinVar Variation Id:
2513790
ClinVar RCV Id:
RCV004291263
dbSNP Id:
rs375020909
ExAC:
19:41518319 G / A
gnomAD v2:
19-41518319-G-A
gnomAD v3:
19-41012414-G-A
gnomAD v4:
19-41012414-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41012414G>A , CM000681.2:g.41012414G>A | GRCh38 |
| NC_000019.9:g.41518319G>A , CM000681.1:g.41518319G>A | GRCh37 |
| NC_000019.8:g.46210159G>A | NCBI36 |
| NG_007929.1:g.26116G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324071.10:c.1081G>A MANE Select | ENSP00000324648.2:p.Asp361Asn | |
| ENST00000598834.2:c.1105G>A | ||
| ENST00000324071.8:c.1081G>A | ENSP00000324648.2:p.Asp361Asn | |
| ENST00000593831.1:c.373G>A | ENSP00000470582.1:p.Asp125Asn | |
| ENST00000597612.1:n.576G>A | ||
| NM_000767.4:c.1081G>A | NP_000758.1:p.Asp361Asn | |
| XM_005258569.3:c.1081G>A | XP_005258626.1:p.Asp361Asn | |
| XM_006723050.2:c.1081G>A | XP_006723113.1:p.Asp361Asn | |
| XM_011526546.1:c.1081G>A | XP_011524848.1:p.Asp361Asn | |
| XM_011526547.1:c.1081G>A | XP_011524849.1:p.Asp361Asn | |
| XM_011526548.1:c.601G>A | XP_011524850.1:p.Asp201Asn | |
| XM_011526549.1:c.490G>A | XP_011524851.1:p.Asp164Asn | |
| XM_011526550.1:c.481G>A | XP_011524852.1:p.Asp161Asn | |
| NM_000767.5:c.1081G>A MANE Select | NP_000758.1:p.Asp361Asn |