Linked Data
dbSNP Id:
rs763486269
ExAC:
10:50701220 C / G
gnomAD v2:
10-50701220-C-G
gnomAD v4:
10-49493174-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49493174C>G , CM000672.2:g.49493174C>G | GRCh38 |
| NC_000010.10:g.50701220C>G , CM000672.1:g.50701220C>G | GRCh37 |
| NC_000010.9:g.50371226C>G | NCBI36 |
| NG_009442.1:g.50928G>C , LRG_465:g.50928G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.1764G>C MANE Select | ENSP00000348089.5:p.Trp588Cys | |
| ENST00000681632.1:n.1842G>C | ||
| ENST00000681659.1:c.1605G>C | ENSP00000505631.1:p.Trp535Cys | |
| ENST00000355832.9:c.1764G>C | ENSP00000348089.5:p.Trp588Cys | |
| ENST00000475116.1:n.275+7364G>C | ||
| ENST00000623073.3:c.165G>C | ENSP00000485650.1:p.Trp55Cys | |
| ENST00000623115.3:c.-70+7364G>C | ENSP00000485321.1:n.-70+7364G>C | |
| ENST00000623318.1:c.165G>C | ENSP00000485423.1:p.Trp55Cys | |
| NM_000124.3:c.1764G>C | NP_000115.1:p.Trp588Cys | |
| NM_001346440.1:c.1764G>C | NP_001333369.1:p.Trp588Cys | |
| NM_000124.4:c.1764G>C MANE Select | NP_000115.1:p.Trp588Cys | |
| NM_001346440.2:c.1764G>C | NP_001333369.1:p.Trp588Cys |