Linked Data
dbSNP Id:
rs762183942
ExAC:
19:45296845 G / A
gnomAD v2:
19-45296845-G-A
gnomAD v4:
19-44793588-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.44793588G>A , CM000681.2:g.44793588G>A | GRCh38 |
| NC_000019.9:g.45296845G>A , CM000681.1:g.45296845G>A | GRCh37 |
| NC_000019.8:g.49988685G>A | NCBI36 |
| NG_054718.1:g.20734G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647358.2:c.1252G>A MANE Select | ENSP00000494162.1:p.Asp418Asn | |
| ENST00000270279.7:c.1252G>A | ENSP00000270279.3:p.Asp418Asn | |
| ENST00000341505.4:c.1114G>A | ENSP00000340250.4:p.Asp372Asn | |
| NM_001130852.1:c.1114G>A | NP_001124324.1:p.Asp372Asn | |
| NM_012116.3:c.1252G>A | NP_036248.3:p.Asp418Asn | |
| XM_005258696.2:c.1252G>A | XP_005258753.1:p.Asp418Asn | |
| XM_011526688.1:c.1252G>A | XP_011524990.1:p.Asp418Asn | |
| XM_011526689.1:c.1114G>A | XP_011524991.1:p.Asp372Asn | |
| XR_935783.1:n.1199G>A | ||
| NM_012116.4:c.1252G>A MANE Select | NP_036248.3:p.Asp418Asn | |
| XM_005258696.3:c.1252G>A | XP_005258753.1:p.Asp418Asn | |
| XM_011526688.2:c.1252G>A | XP_011524990.1:p.Asp418Asn | |
| XM_011526689.2:c.1114G>A | XP_011524991.1:p.Asp372Asn | |
| XR_935783.2:n.1204G>A |