Linked Data
dbSNP Id:
rs772791856
ExAC:
1:215844611 G / C
gnomAD v2:
1-215844611-G-C
gnomAD v4:
1-215671269-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215671269G>C , CM000663.2:g.215671269G>C | GRCh38 |
| NC_000001.10:g.215844611G>C , CM000663.1:g.215844611G>C | GRCh37 |
| NC_000001.9:g.213911234G>C | NCBI36 |
| NG_009497.1:g.757128C>G | |
| NG_009497.2:g.757180C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.13836C>G MANE Select | ENSP00000305941.3:p.Cys4612Trp | |
| ENST00000674083.1:c.13836C>G | ENSP00000501296.1:p.Cys4612Trp | |
| ENST00000307340.7:c.13836C>G | ENSP00000305941.3:p.Cys4612Trp | |
| NM_206933.2:c.13836C>G | NP_996816.2:p.Cys4612Trp | |
| NM_206933.3:c.13836C>G | NP_996816.2:p.Cys4612Trp | |
| NM_206933.4:c.13836C>G MANE Select | NP_996816.3:p.Cys4612Trp |