Linked Data
ClinVar Variation Id:
388168
ClinVar RCV Id:
RCV000435734
dbSNP Id:
rs1057523018
gnomAD v4:
X-19359505-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.19359505T>G , CM000685.2:g.19359505T>G | GRCh38 |
| NC_000023.10:g.19377623T>G , CM000685.1:g.19377623T>G | GRCh37 |
| NC_000023.9:g.19287544T>G | NCBI36 |
| NG_016781.1:g.20613T>G | |
| NG_021184.1:g.160757A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355808.10:c.1046T>G | ENSP00000348062.6:p.Val349Gly | |
| ENST00000379805.4:c.*717T>G | ENSP00000369133.3:n.*717T>G | |
| ENST00000417819.6:c.1109T>G | ENSP00000404616.2:p.Val370Gly | |
| ENST00000423505.6:c.1139T>G | ENSP00000406473.2:p.Val380Gly | |
| ENST00000481733.2:n.820T>G | ||
| ENST00000696704.1:c.*357T>G | ENSP00000512823.1:n.*357T>G | |
| ENST00000696705.1:c.*480T>G | ENSP00000512824.1:n.*480T>G | |
| ENST00000422285.7:c.1025T>G MANE Select | ENSP00000394382.2:p.Val342Gly | |
| ENST00000379804.1:c.182T>G | ENSP00000369132.1:p.Val61Gly | |
| ENST00000379806.9:c.1139T>G | ENSP00000369134.5:p.Val380Gly | |
| ENST00000422285.6:c.1025T>G | ENSP00000394382.2:p.Val342Gly | |
| ENST00000478795.1:n.464T>G | ||
| ENST00000540249.5:c.932T>G | ENSP00000440761.1:p.Val311Gly | |
| ENST00000545074.5:c.1046T>G | ENSP00000438550.1:p.Val349Gly | |
| NM_000284.3:c.1025T>G | NP_000275.1:p.Val342Gly | |
| NM_001173454.1:c.1139T>G | NP_001166925.1:p.Val380Gly | |
| NM_001173455.1:c.1046T>G | NP_001166926.1:p.Val349Gly | |
| NM_001173456.1:c.932T>G | NP_001166927.1:p.Val311Gly | |
| XM_011545531.1:c.1160T>G | XP_011543833.1:p.Val387Gly | |
| XM_011545532.1:c.1067T>G | XP_011543834.1:p.Val356Gly | |
| XM_017029574.2:c.1046T>G | XP_016885063.1:p.Val349Gly | |
| NM_000284.4:c.1025T>G MANE Select | NP_000275.1:p.Val342Gly | |
| NM_001173454.2:c.1139T>G | NP_001166925.1:p.Val380Gly | |
| NM_001173455.2:c.1046T>G | NP_001166926.1:p.Val349Gly | |
| NM_001173456.2:c.932T>G | NP_001166927.1:p.Val311Gly |