Linked Data
ClinVar Variation Id:
448039
dbSNP Id:
rs1553925453
gnomAD v3:
4-88038371-C-T
gnomAD v4:
4-88038371-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88038371C>T , CM000666.2:g.88038371C>T | GRCh38 |
| NC_000004.11:g.88959523C>T , CM000666.1:g.88959523C>T | GRCh37 |
| NC_000004.10:g.89178547C>T | NCBI36 |
| NG_008604.1:g.35704C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237596.7:c.964C>T MANE Select | ENSP00000237596.2:p.Arg322Trp | |
| ENST00000237596.6:c.964C>T | ENSP00000237596.2:p.Arg322Trp | |
| ENST00000506367.1:n.411C>T | ||
| ENST00000506727.1:n.550C>T | ||
| NM_000297.3:c.964C>T | NP_000288.1:p.Arg322Trp | |
| XM_011532028.1:c.964C>T | XP_011530330.1:p.Arg322Trp | |
| XM_011532029.1:c.244C>T | XP_011530331.1:p.Arg82Trp | |
| XM_011532030.1:c.124C>T | XP_011530332.1:p.Arg42Trp | |
| XR_244632.2:n.1059C>T | ||
| NR_156488.1:n.1051C>T | ||
| XM_011532028.2:c.964C>T | XP_011530330.1:p.Arg322Trp | |
| XM_011532030.2:c.124C>T | XP_011530332.1:p.Arg42Trp | |
| NM_000297.4:c.964C>T MANE Select | NP_000288.1:p.Arg322Trp | |
| NR_156488.2:n.1063C>T |