Linked Data
ClinVar Variation Id:
2931952
ClinVar RCV Id:
RCV003792974
dbSNP Id:
rs140190607
gnomAD v2:
2-202074124-C-T
gnomAD v4:
2-201209401-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.201209401C>T , CM000664.2:g.201209401C>T | GRCh38 |
| NC_000002.11:g.202074124C>T , CM000664.1:g.202074124C>T | GRCh37 |
| NC_000002.10:g.201782369C>T | NCBI36 |
| NG_007265.1:g.31270C>T , LRG_33:g.31270C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313728.12:c.1053C>T | ENSP00000314599.7:p.Asn351= | |
| ENST00000346817.10:c.1125C>T | ENSP00000237865.7:p.Asn375= | |
| ENST00000438843.6:c.*711C>T | ENSP00000401914.1:n.*711C>T | |
| ENST00000492363.6:c.*340C>T | ENSP00000512459.1:n.*340C>T | |
| ENST00000696199.1:c.721+5635C>T | ENSP00000512481.1:n.721+5635C>T | |
| ENST00000286186.11:c.1254C>T MANE Select | ENSP00000286186.6:p.Asn418= | |
| ENST00000272879.9:c.1254C>T | ENSP00000272879.5:p.Asn418= | |
| ENST00000286186.10:c.1254C>T | ENSP00000286186.6:p.Asn418= | |
| ENST00000313728.11:c.1053C>T | ENSP00000314599.7:p.Asn351= | |
| ENST00000346817.9:c.1125C>T | ENSP00000237865.7:p.Asn375= | |
| ENST00000360132.7:c.*340C>T | ENSP00000353250.3:n.*340C>T | |
| ENST00000448480.1:c.1125C>T | ENSP00000396835.1:p.Asn375= | |
| ENST00000492363.5:n.1162C>T | ||
| NM_001206524.1:c.1053C>T | NP_001193453.1:p.Asn351= | |
| NM_001206542.1:c.1125C>T | NP_001193471.1:p.Asn375= | |
| NM_001230.4:c.1125C>T | NP_001221.2:p.Asn375= | |
| NM_032974.4:c.1254C>T | NP_116756.2:p.Asn418= | |
| NM_032976.3:c.*340C>T | NP_116758.1:n.*340C>T | |
| NM_032977.3:c.1254C>T , LRG_33t1:c.1254C>T | NP_116759.2:p.Asn418= | |
| XM_005246907.2:c.1251C>T | XP_005246964.1:p.Asn417= | |
| XM_006712796.2:c.504C>T | XP_006712859.1:p.Asn168= | |
| XM_006712796.3:c.504C>T | XP_006712859.1:p.Asn168= | |
| NM_001206524.2:c.1053C>T | NP_001193453.1:p.Asn351= | |
| NM_001206542.2:c.1125C>T | NP_001193471.1:p.Asn375= | |
| NM_001230.5:c.1125C>T | NP_001221.2:p.Asn375= | |
| NM_032974.5:c.1254C>T | NP_116756.2:p.Asn418= | |
| NM_032977.4:c.1254C>T MANE Select | NP_116759.2:p.Asn418= | |
| NM_032976.4:c.*340C>T | NP_116758.1:n.*340C>T |