Linked Data
ClinVar Variation Id:
2146759
dbSNP Id:
rs199914625
ExAC:
11:67815229 C / G
gnomAD v2:
11-67815229-C-G
gnomAD v3:
11-68047762-C-G
gnomAD v4:
11-68047762-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68047762C>G , CM000673.2:g.68047762C>G | GRCh38 |
| NC_000011.9:g.67815229C>G , CM000673.1:g.67815229C>G | GRCh37 |
| NC_000011.8:g.67571805C>G | NCBI36 |
| NG_007878.1:g.13747C>G , LRG_115:g.13747C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000530449.2:n.46C>G | ||
| ENST00000698254.1:c.950C>G | ENSP00000513629.1:p.Ser317Trp | |
| ENST00000698255.1:c.1370C>G | ENSP00000513630.1:p.Ser457Trp | |
| ENST00000698256.1:c.887C>G | ||
| ENST00000698257.1:n.839C>G | ||
| ENST00000698258.1:n.479C>G | ||
| ENST00000698259.1:n.245C>G | ||
| ENST00000265686.8:c.1421C>G MANE Select | ENSP00000265686.3:p.Ser474Trp | |
| ENST00000265686.7:c.1421C>G | ENSP00000265686.3:p.Ser474Trp | |
| ENST00000525516.1:n.215C>G | ||
| ENST00000525724.5:n.733C>G | ||
| ENST00000528981.5:c.573C>G | ||
| ENST00000529364.1:c.832C>G | ||
| ENST00000532635.5:c.773C>G | ENSP00000434407.1:p.Ser258Trp | |
| ENST00000533005.5:n.457C>G | ||
| NM_006019.3:c.1421C>G | NP_006010.2:p.Ser474Trp | |
| NM_006053.3:c.773C>G | NP_006044.1:p.Ser258Trp | |
| XM_005273709.2:c.1421C>G | XP_005273766.1:p.Ser474Trp | |
| XM_011544726.1:c.1421C>G | XP_011543028.1:p.Ser474Trp | |
| XM_011544727.1:c.1421C>G | XP_011543029.1:p.Ser474Trp | |
| XM_011544728.1:c.1421C>G | XP_011543030.1:p.Ser474Trp | |
| XM_011544729.1:c.1437C>G | XP_011543031.1:p.Leu479= | |
| XR_949754.1:n.1425C>G | ||
| NM_001351059.1:c.527C>G | NP_001337988.1:p.Ser176Trp | |
| XM_024448320.1:c.1437C>G | XP_024304088.1:p.Leu479= | |
| XM_024448321.1:c.1437C>G | XP_024304089.1:p.Leu479= | |
| XM_024448322.1:c.1437C>G | XP_024304090.1:p.Leu479= | |
| XM_024448323.1:c.1437C>G | XP_024304091.1:p.Leu479= | |
| XM_024448324.1:c.1437C>G | XP_024304092.1:p.Leu479= | |
| XR_001747721.2:n.1545C>G | ||
| XR_001747722.1:n.1558C>G | ||
| XR_001747723.2:n.1558C>G | ||
| XR_002957115.1:n.1559C>G | ||
| NM_006019.4:c.1421C>G MANE Select | NP_006010.2:p.Ser474Trp | |
| NM_001351059.2:c.527C>G | NP_001337988.1:p.Ser176Trp | |
| NM_006053.4:c.773C>G | NP_006044.1:p.Ser258Trp |