Linked Data
dbSNP Id:
rs965824310
gnomAD v2:
16-67973981-C-G
gnomAD v3:
16-67940078-C-G
gnomAD v4:
16-67940078-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67940078C>G , CM000678.2:g.67940078C>G | GRCh38 |
| NC_000016.9:g.67973981C>G , CM000678.1:g.67973981C>G | GRCh37 |
| NC_000016.8:g.66531482C>G | NCBI36 |
| NG_009778.1:g.9035G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264005.10:c.1149G>C MANE Select | ENSP00000264005.5:p.Trp383Cys | |
| ENST00000264005.9:c.1149G>C | ENSP00000264005.5:p.Trp383Cys | |
| ENST00000570369.5:c.156-4G>C | ||
| ENST00000573538.5:c.887G>C | ENSP00000463220.1:n.887G>C | |
| NM_000229.1:c.1149G>C | NP_000220.1:p.Trp383Cys | |
| NM_000229.2:c.1149G>C MANE Select | NP_000220.1:p.Trp383Cys |