Linked Data
dbSNP Id:
rs745394073
ExAC:
17:59668251 C / G
gnomAD v2:
17-59668251-C-G
gnomAD v4:
17-61590890-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61590890C>G , CM000679.2:g.61590890C>G | GRCh38 |
| NC_000017.10:g.59668251C>G , CM000679.1:g.59668251C>G | GRCh37 |
| NC_000017.9:g.57023033C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000521764.3:c.291G>C MANE Select | ENSP00000427802.1:p.Trp97Cys | |
| ENST00000521764.2:c.291G>C | ENSP00000427802.1:p.Trp97Cys | |
| NM_199290.3:c.291G>C | NP_954984.1:p.Trp97Cys | |
| NM_199290.4:c.291G>C MANE Select | NP_954984.1:p.Trp97Cys |