Linked Data
ClinVar Variation Id:
1555514
ClinVar RCV Id:
RCV002202025
dbSNP Id:
rs199853584
ExAC:
2:202074265 T / C
gnomAD v2:
2-202074265-T-C
gnomAD v3:
2-201209542-T-C
gnomAD v4:
2-201209542-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.201209542T>C , CM000664.2:g.201209542T>C | GRCh38 |
| NC_000002.11:g.202074265T>C , CM000664.1:g.202074265T>C | GRCh37 |
| NC_000002.10:g.201782510T>C | NCBI36 |
| NG_007265.1:g.31411T>C , LRG_33:g.31411T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313728.12:c.1194T>C | ENSP00000314599.7:p.His398= | |
| ENST00000346817.10:c.1266T>C | ENSP00000237865.7:p.His422= | |
| ENST00000438843.6:c.*852T>C | ENSP00000401914.1:n.*852T>C | |
| ENST00000492363.6:c.*481T>C | ENSP00000512459.1:n.*481T>C | |
| ENST00000696199.1:c.721+5776T>C | ENSP00000512481.1:n.721+5776T>C | |
| ENST00000286186.11:c.1395T>C MANE Select | ENSP00000286186.6:p.His465= | |
| ENST00000272879.9:c.1395T>C | ENSP00000272879.5:p.His465= | |
| ENST00000286186.10:c.1395T>C | ENSP00000286186.6:p.His465= | |
| ENST00000313728.11:c.1194T>C | ENSP00000314599.7:p.His398= | |
| ENST00000346817.9:c.1266T>C | ENSP00000237865.7:p.His422= | |
| ENST00000360132.7:c.*481T>C | ENSP00000353250.3:n.*481T>C | |
| ENST00000448480.1:c.1266T>C | ENSP00000396835.1:p.His422= | |
| ENST00000492363.5:n.1303T>C | ||
| NM_001206524.1:c.1194T>C | NP_001193453.1:p.His398= | |
| NM_001206542.1:c.1266T>C | NP_001193471.1:p.His422= | |
| NM_001230.4:c.1266T>C | NP_001221.2:p.His422= | |
| NM_032974.4:c.1395T>C | NP_116756.2:p.His465= | |
| NM_032976.3:c.*481T>C | NP_116758.1:n.*481T>C | |
| NM_032977.3:c.1395T>C , LRG_33t1:c.1395T>C | NP_116759.2:p.His465= | |
| XM_005246907.2:c.1392T>C | XP_005246964.1:p.His464= | |
| XM_006712796.2:c.645T>C | XP_006712859.1:p.His215= | |
| XM_006712796.3:c.645T>C | XP_006712859.1:p.His215= | |
| NM_001206524.2:c.1194T>C | NP_001193453.1:p.His398= | |
| NM_001206542.2:c.1266T>C | NP_001193471.1:p.His422= | |
| NM_001230.5:c.1266T>C | NP_001221.2:p.His422= | |
| NM_032974.5:c.1395T>C | NP_116756.2:p.His465= | |
| NM_032977.4:c.1395T>C MANE Select | NP_116759.2:p.His465= | |
| NM_032976.4:c.*481T>C | NP_116758.1:n.*481T>C |