Linked Data
dbSNP Id:
rs754097471
ExAC:
X:105277719 G / C
gnomAD v2:
X-105277719-G-C
gnomAD v3:
X-106033728-G-C
gnomAD v4:
X-106033728-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.106033728G>C , CM000685.2:g.106033728G>C | GRCh38 |
| NC_000023.10:g.105277719G>C , CM000685.1:g.105277719G>C | GRCh37 |
| NC_000023.9:g.105164375G>C | NCBI36 |
| NG_021252.1:g.10000C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372563.2:c.1045-25C>G MANE Select | ENSP00000361644.1:n.1045-25C>G | |
| ENST00000327674.8:c.1045-25C>G | ENSP00000329374.4:n.1045-25C>G | |
| ENST00000372563.1:c.1045-25C>G | ENSP00000361644.1:n.1045-25C>G | |
| ENST00000487487.1:n.354C>G | ||
| NM_000354.5:c.1045-25C>G | NP_000345.2:n.1045-25C>G | |
| XM_005262180.3:c.1081C>G | XP_005262237.1:p.Arg361Gly | |
| XM_006724683.1:c.1050C>G | XP_006724746.1:p.Pro350= | |
| XM_005262180.4:c.1081C>G | XP_005262237.1:p.Arg361Gly | |
| XM_006724683.2:c.1050C>G | XP_006724746.1:p.Pro350= | |
| NM_000354.6:c.1045-25C>G MANE Select | NP_000345.2:n.1045-25C>G |