Linked Data
dbSNP Id:
rs776235336
ExAC:
15:38643740 T / G
gnomAD v2:
15-38643740-T-G
gnomAD v4:
15-38351539-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.38351539T>G , CM000677.2:g.38351539T>G | GRCh38 |
| NC_000015.9:g.38643740T>G , CM000677.1:g.38643740T>G | GRCh37 |
| NC_000015.8:g.36431032T>G | NCBI36 |
| NG_008980.1:g.103689T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299084.9:c.1210T>G MANE Select | ENSP00000299084.4:p.Trp404Gly | |
| ENST00000299084.8:c.1210T>G | ENSP00000299084.4:p.Trp404Gly | |
| NM_152594.2:c.1210T>G | NP_689807.1:p.Trp404Gly | |
| XM_005254202.2:c.1246T>G | XP_005254259.1:p.Trp416Gly | |
| XM_005254203.3:c.988T>G | XP_005254260.1:p.Trp330Gly | |
| XM_011521288.1:c.1147T>G | XP_011519590.1:p.Trp383Gly | |
| XM_011521289.1:c.1147T>G | XP_011519591.1:p.Trp383Gly | |
| XM_011521290.1:c.1147T>G | XP_011519592.1:p.Trp383Gly | |
| XM_005254202.3:c.1246T>G | XP_005254259.1:p.Trp416Gly | |
| XM_011521289.3:c.1147T>G | XP_011519591.1:p.Trp383Gly | |
| NM_152594.3:c.1210T>G MANE Select | NP_689807.1:p.Trp404Gly |