Linked Data
ClinVar Variation Id:
1921410
ClinVar RCV Id:
RCV002608852
dbSNP Id:
rs771555935
ExAC:
3:38766753 C / T
gnomAD v2:
3-38766753-C-T
gnomAD v4:
3-38725262-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.38725262C>T , CM000665.2:g.38725262C>T | GRCh38 |
| NC_000003.11:g.38766753C>T , CM000665.1:g.38766753C>T | GRCh37 |
| NC_000003.10:g.38741757C>T | NCBI36 |
| NG_031891.2:g.73749G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449082.3:c.3140G>A MANE Select | ENSP00000390600.2:p.Ser1047Asn | |
| ENST00000643924.1:c.3137G>A | ENSP00000495595.1:p.Ser1046Asn | |
| ENST00000655275.1:c.3164G>A | ENSP00000499510.1:p.Ser1055Asn | |
| ENST00000449082.2:c.3140G>A | ENSP00000390600.2:p.Ser1047Asn | |
| NM_001293306.2:c.3137G>A | NP_001280235.2:p.Ser1046Asn | |
| NM_001293307.2:c.2846G>A | NP_001280236.2:p.Ser949Asn | |
| NM_006514.3:c.3140G>A | NP_006505.3:p.Ser1047Asn | |
| XM_005265371.2:c.3149G>A | XP_005265428.1:p.Ser1050Asn | |
| XM_011533993.1:c.3146G>A | XP_011532295.1:p.Ser1049Asn | |
| XM_011533994.1:c.2855G>A | XP_011532296.1:p.Ser952Asn | |
| XM_005265371.3:c.3149G>A | XP_005265428.1:p.Ser1050Asn | |
| XM_011533993.2:c.3146G>A | XP_011532295.1:p.Ser1049Asn | |
| XM_011533994.2:c.2855G>A | XP_011532296.1:p.Ser952Asn | |
| NM_006514.4:c.3140G>A MANE Select | NP_006505.4:p.Ser1047Asn |