Linked Data
dbSNP Id:
rs373702339
gnomAD v2:
17-59667964-G-C
gnomAD v3:
17-61590603-G-C
gnomAD v4:
17-61590603-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61590603G>C , CM000679.2:g.61590603G>C | GRCh38 |
| NC_000017.10:g.59667964G>C , CM000679.1:g.59667964G>C | GRCh37 |
| NC_000017.9:g.57022746G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000521764.3:c.578C>G MANE Select | ENSP00000427802.1:p.Ala193Gly | |
| ENST00000521764.2:c.578C>G | ENSP00000427802.1:p.Ala193Gly | |
| NM_199290.3:c.578C>G | NP_954984.1:p.Ala193Gly | |
| NM_199290.4:c.578C>G MANE Select | NP_954984.1:p.Ala193Gly |