Linked Data
dbSNP Id:
rs75068032
ExAC:
19:15298084 G / C
gnomAD v2:
19-15298084-G-C
gnomAD v3:
19-15187273-G-C
gnomAD v4:
19-15187273-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15187273G>C , CM000681.2:g.15187273G>C | GRCh38 |
| NC_000019.9:g.15298084G>C , CM000681.1:g.15298084G>C | GRCh37 |
| NC_000019.8:g.15159084G>C | NCBI36 |
| NG_009819.1:g.18709C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263388.7:c.1672C>G MANE Select | ENSP00000263388.1:p.Arg558Gly | |
| ENST00000263388.6:c.1672C>G | ENSP00000263388.1:p.Arg558Gly | |
| ENST00000601011.1:c.1669C>G | ENSP00000473138.1:p.Arg557Gly | |
| NM_000435.2:c.1672C>G | NP_000426.2:p.Arg558Gly | |
| XM_005259924.3:c.1672C>G | XP_005259981.1:p.Arg558Gly | |
| XM_005259924.4:c.1672C>G | XP_005259981.1:p.Arg558Gly | |
| NM_000435.3:c.1672C>G MANE Select | NP_000426.2:p.Arg558Gly |