Linked Data
dbSNP Id:
rs146980221
ExAC:
1:233490701 G / A
gnomAD v2:
1-233490701-G-A
gnomAD v3:
1-233354955-G-A
gnomAD v4:
1-233354955-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.233354955G>A , CM000663.2:g.233354955G>A | GRCh38 |
| NC_000001.10:g.233490701G>A , CM000663.1:g.233490701G>A | GRCh37 |
| NC_000001.9:g.231557324G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366624.8:c.1255G>A MANE Select | ENSP00000355583.3:p.Asp419Asn | |
| ENST00000366623.7:c.1255G>A | ENSP00000355582.3:p.Asp419Asn | |
| ENST00000366624.7:c.1255G>A | ENSP00000355583.3:p.Asp419Asn | |
| NM_032435.2:c.1255G>A | NP_115811.2:p.Asp419Asn | |
| XM_011544305.1:c.1255G>A | XP_011542607.1:p.Asp419Asn | |
| XM_011544305.2:c.1255G>A | XP_011542607.1:p.Asp419Asn | |
| NM_032435.3:c.1255G>A MANE Select | NP_115811.2:p.Asp419Asn |