Linked Data
dbSNP Id:
rs759715103
ExAC:
2:121748226 G / A
gnomAD v2:
2-121748226-G-A
gnomAD v3:
2-120990650-G-A
gnomAD v4:
2-120990650-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.120990650G>A , CM000664.2:g.120990650G>A | GRCh38 |
| NC_000002.11:g.121748226G>A , CM000664.1:g.121748226G>A | GRCh37 |
| NC_000002.10:g.121464696G>A | NCBI36 |
| NG_009030.1:g.198360G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361492.9:c.4685G>A MANE Select | ENSP00000354586.5:p.Ser1562Asn | |
| ENST00000452319.6:c.4736G>A | ENSP00000390436.1:p.Ser1579Asn | |
| ENST00000341310.10:c.*3784G>A | ENSP00000344473.6:n.*3784G>A | |
| ENST00000361492.8:c.4736G>A | ENSP00000354586.4:p.Ser1579Asn | |
| ENST00000438299.5:c.*2604G>A | ENSP00000400593.1:n.*2604G>A | |
| ENST00000445186.5:c.*3835G>A | ENSP00000397488.1:n.*3835G>A | |
| ENST00000452319.5:c.4736G>A | ENSP00000390436.1:p.Ser1579Asn | |
| ENST00000452692.5:c.*2553G>A | ENSP00000403715.1:n.*2553G>A | |
| NM_005270.4:c.4736G>A | NP_005261.2:p.Ser1579Asn | |
| XM_006712422.1:c.4685G>A | XP_006712485.1:p.Ser1562Asn | |
| XM_011510969.1:c.4718G>A | XP_011509271.1:p.Ser1573Asn | |
| XM_011510970.1:c.4595G>A | XP_011509272.1:p.Ser1532Asn | |
| XM_011510971.1:c.4541G>A | XP_011509273.1:p.Ser1514Asn | |
| XM_011510972.1:c.4541G>A | XP_011509274.1:p.Ser1514Asn | |
| XM_011510973.1:c.4361G>A | XP_011509275.1:p.Ser1454Asn | |
| XM_011510974.1:c.4310G>A | XP_011509276.1:p.Ser1437Asn | |
| XM_006712422.3:c.4685G>A | XP_006712485.1:p.Ser1562Asn | |
| XM_011510969.2:c.4988G>A | XP_011509271.2:p.Ser1663Asn | |
| XM_011510970.2:c.4595G>A | XP_011509272.1:p.Ser1532Asn | |
| XM_011510971.2:c.4541G>A | XP_011509273.1:p.Ser1514Asn | |
| XM_011510972.2:c.4637G>A | XP_011509274.2:p.Ser1546Asn | |
| XM_011510973.2:c.4361G>A | XP_011509275.1:p.Ser1454Asn | |
| XM_011510974.2:c.4310G>A | XP_011509276.1:p.Ser1437Asn | |
| XM_017003818.1:c.4937G>A | XP_016859307.1:p.Ser1646Asn | |
| XM_024452794.1:c.4736G>A | XP_024308562.1:p.Ser1579Asn | |
| XM_024452795.1:c.4736G>A | XP_024308563.1:p.Ser1579Asn | |
| NM_001371271.1:c.4736G>A | NP_001358200.1:p.Ser1579Asn | |
| NM_001374353.1:c.4685G>A MANE Select | NP_001361282.1:p.Ser1562Asn | |
| NM_001374354.1:c.4310G>A | NP_001361283.1:p.Ser1437Asn | |
| NM_005270.5:c.4736G>A | NP_005261.2:p.Ser1579Asn |