Linked Data
dbSNP Id:
rs768320352
ExAC:
X:107938087 C / G
gnomAD v2:
X-107938087-C-G
gnomAD v4:
X-108694857-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108694857C>G , CM000685.2:g.108694857C>G | GRCh38 |
| NC_000023.10:g.107938087C>G , CM000685.1:g.107938087C>G | GRCh37 |
| NC_000023.9:g.107824743C>G | NCBI36 |
| NG_011977.1:g.259934C>G | |
| NG_011977.2:g.259934C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328300.11:c.4757C>G MANE Select | ENSP00000331902.7:p.Thr1586Arg | |
| ENST00000361603.7:c.4739C>G | ENSP00000354505.2:p.Thr1580Arg | |
| ENST00000510690.2:n.1251C>G | ||
| ENST00000644079.1:n.1243C>G | ||
| ENST00000328300.10:c.4757C>G | ENSP00000331902.6:p.Thr1586Arg | |
| ENST00000361603.6:c.4739C>G | ENSP00000354505.2:p.Thr1580Arg | |
| ENST00000504541.1:c.155C>G | ENSP00000424845.1:p.Thr52Arg | |
| ENST00000515658.1:c.325-1440C>G | ||
| NM_000495.4:c.4739C>G | NP_000486.1:p.Thr1580Arg | |
| NM_033380.2:c.4757C>G | NP_203699.1:p.Thr1586Arg | |
| XM_005262070.2:c.4748C>G | XP_005262127.1:p.Thr1583Arg | |
| XM_006724616.2:c.4757C>G | XP_006724679.1:p.Thr1586Arg | |
| XM_011530849.1:c.4433C>G | XP_011529151.1:p.Thr1478Arg | |
| XM_011530851.1:c.2330C>G | XP_011529153.1:p.Thr777Arg | |
| XM_011530849.2:c.4772C>G | XP_011529151.2:p.Thr1591Arg | |
| XM_017029259.2:c.4763C>G | XP_016884748.1:p.Thr1588Arg | |
| XM_017029260.1:c.4754C>G | XP_016884749.1:p.Thr1585Arg | |
| XM_017029263.2:c.3092C>G | XP_016884752.1:p.Thr1031Arg | |
| NM_000495.5:c.4739C>G | NP_000486.1:p.Thr1580Arg | |
| NM_033380.3:c.4757C>G MANE Select | NP_203699.1:p.Thr1586Arg |