Linked Data
dbSNP Id:
rs751574392
ExAC:
3:38766727 C / T
gnomAD v2:
3-38766727-C-T
gnomAD v4:
3-38725236-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.38725236C>T , CM000665.2:g.38725236C>T | GRCh38 |
| NC_000003.11:g.38766727C>T , CM000665.1:g.38766727C>T | GRCh37 |
| NC_000003.10:g.38741731C>T | NCBI36 |
| NG_031891.2:g.73775G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449082.3:c.3166G>A MANE Select | ENSP00000390600.2:p.Asp1056Asn | |
| ENST00000643924.1:c.3163G>A | ENSP00000495595.1:p.Asp1055Asn | |
| ENST00000655275.1:c.3190G>A | ENSP00000499510.1:p.Asp1064Asn | |
| ENST00000449082.2:c.3166G>A | ENSP00000390600.2:p.Asp1056Asn | |
| NM_001293306.2:c.3163G>A | NP_001280235.2:p.Asp1055Asn | |
| NM_001293307.2:c.2872G>A | NP_001280236.2:p.Asp958Asn | |
| NM_006514.3:c.3166G>A | NP_006505.3:p.Asp1056Asn | |
| XM_005265371.2:c.3175G>A | XP_005265428.1:p.Asp1059Asn | |
| XM_011533993.1:c.3172G>A | XP_011532295.1:p.Asp1058Asn | |
| XM_011533994.1:c.2881G>A | XP_011532296.1:p.Asp961Asn | |
| XM_005265371.3:c.3175G>A | XP_005265428.1:p.Asp1059Asn | |
| XM_011533993.2:c.3172G>A | XP_011532295.1:p.Asp1058Asn | |
| XM_011533994.2:c.2881G>A | XP_011532296.1:p.Asp961Asn | |
| NM_006514.4:c.3166G>A MANE Select | NP_006505.4:p.Asp1056Asn |