Linked Data
dbSNP Id:
rs1400964026
gnomAD v2:
2-121746580-C-T
gnomAD v3:
2-120989004-C-T
gnomAD v4:
2-120989004-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.120989004C>T , CM000664.2:g.120989004C>T | GRCh38 |
| NC_000002.11:g.121746580C>T , CM000664.1:g.121746580C>T | GRCh37 |
| NC_000002.10:g.121463050C>T | NCBI36 |
| NG_009030.1:g.196714C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361492.9:c.3039C>T MANE Select | ENSP00000354586.5:p.Ser1013= | |
| ENST00000452319.6:c.3090C>T | ENSP00000390436.1:p.Ser1030= | |
| ENST00000341310.10:c.*2138C>T | ENSP00000344473.6:n.*2138C>T | |
| ENST00000361492.8:c.3090C>T | ENSP00000354586.4:p.Ser1030= | |
| ENST00000438299.5:c.*2189C>T | ENSP00000400593.1:n.*2189C>T | |
| ENST00000445186.5:c.*2189C>T | ENSP00000397488.1:n.*2189C>T | |
| ENST00000452319.5:c.3090C>T | ENSP00000390436.1:p.Ser1030= | |
| ENST00000452692.5:c.*2138C>T | ENSP00000403715.1:n.*2138C>T | |
| NM_005270.4:c.3090C>T | NP_005261.2:p.Ser1030= | |
| XM_006712422.1:c.3039C>T | XP_006712485.1:p.Ser1013= | |
| XM_011510969.1:c.3072C>T | XP_011509271.1:p.Ser1024= | |
| XM_011510970.1:c.2949C>T | XP_011509272.1:p.Ser983= | |
| XM_011510971.1:c.2895C>T | XP_011509273.1:p.Ser965= | |
| XM_011510972.1:c.2895C>T | XP_011509274.1:p.Ser965= | |
| XM_011510973.1:c.2715C>T | XP_011509275.1:p.Ser905= | |
| XM_011510974.1:c.2664C>T | XP_011509276.1:p.Ser888= | |
| XM_006712422.3:c.3039C>T | XP_006712485.1:p.Ser1013= | |
| XM_011510969.2:c.3342C>T | XP_011509271.2:p.Ser1114= | |
| XM_011510970.2:c.2949C>T | XP_011509272.1:p.Ser983= | |
| XM_011510971.2:c.2895C>T | XP_011509273.1:p.Ser965= | |
| XM_011510972.2:c.2991C>T | XP_011509274.2:p.Ser997= | |
| XM_011510973.2:c.2715C>T | XP_011509275.1:p.Ser905= | |
| XM_011510974.2:c.2664C>T | XP_011509276.1:p.Ser888= | |
| XM_017003818.1:c.3291C>T | XP_016859307.1:p.Ser1097= | |
| XM_024452794.1:c.3090C>T | XP_024308562.1:p.Ser1030= | |
| XM_024452795.1:c.3090C>T | XP_024308563.1:p.Ser1030= | |
| NM_001371271.1:c.3090C>T | NP_001358200.1:p.Ser1030= | |
| NM_001374353.1:c.3039C>T MANE Select | NP_001361282.1:p.Ser1013= | |
| NM_001374354.1:c.2664C>T | NP_001361283.1:p.Ser888= | |
| NM_005270.5:c.3090C>T | NP_005261.2:p.Ser1030= |