Linked Data
dbSNP Id:
rs1389659880
gnomAD v2:
17-40556802-C-G
gnomAD v3:
17-42404784-C-G
gnomAD v4:
17-42404784-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42404784C>G , CM000679.2:g.42404784C>G | GRCh38 |
| NC_000017.10:g.40556802C>G , CM000679.1:g.40556802C>G | GRCh37 |
| NC_000017.9:g.37810328C>G | NCBI36 |
| NG_015845.1:g.23537G>C | |
| NG_015845.2:g.23537G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357037.6:c.1076G>C MANE Select | ENSP00000349541.4:p.Gly359Ala | |
| ENST00000357037.5:c.1076G>C | ENSP00000349541.4:p.Gly359Ala | |
| NM_012232.5:c.1076G>C | NP_036364.2:p.Gly359Ala | |
| NM_012232.6:c.1076G>C MANE Select | NP_036364.2:p.Gly359Ala |