Linked Data
dbSNP Id:
rs757393018
ExAC:
19:36223803 T / G
gnomAD v2:
19-36223803-T-G
gnomAD v4:
19-35732902-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35732902T>G , CM000681.2:g.35732902T>G | GRCh38 |
| NC_000019.9:g.36223803T>G , CM000681.1:g.36223803T>G | GRCh37 |
| NC_000019.8:g.40915643T>G | NCBI36 |
| NG_052906.1:g.19884T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000592092.2:n.659T>G | ||
| ENST00000673918.2:c.6287T>G | ENSP00000501283.1:p.Leu2096Trp | |
| ENST00000674114.2:c.3894T>G | ENSP00000501039.2:n.3894T>G | |
| ENST00000684977.1:c.1571T>G | ENSP00000509384.1:p.Leu524Trp | |
| ENST00000689544.1:n.1506T>G | ||
| ENST00000691421.1:c.1574T>G | ENSP00000508674.1:p.Leu525Trp | |
| ENST00000691855.1:c.5895T>G | ||
| ENST00000692961.1:c.6353T>G | ENSP00000509289.1:p.Leu2118Trp | |
| ENST00000693677.1:c.704+573T>G | ENSP00000509779.1:n.704+573T>G | |
| ENST00000420124.4:c.6353T>G MANE Select | ENSP00000398837.2:p.Leu2118Trp | |
| ENST00000673918.1:c.6287T>G | ENSP00000501283.1:p.Leu2096Trp | |
| ENST00000674114.1:c.3675T>G | ||
| ENST00000420124.2:c.6353T>G | ENSP00000398837.1:p.Leu2118Trp | |
| NM_014727.2:c.6353T>G | NP_055542.1:p.Leu2118Trp | |
| XM_011527561.1:c.6287T>G | XP_011525863.1:p.Leu2096Trp | |
| XM_011527562.1:c.6353T>G | XP_011525864.1:p.Leu2118Trp | |
| XM_011527563.1:c.6077T>G | XP_011525865.1:p.Leu2026Trp | |
| XM_011527561.2:c.5789T>G | XP_011525863.2:p.Leu1930Trp | |
| XM_011527562.2:c.6353T>G | XP_011525864.1:p.Leu2118Trp | |
| XM_017027544.1:c.6353T>G | XP_016883033.1:p.Leu2118Trp | |
| XM_017027545.1:c.5789T>G | XP_016883034.1:p.Leu1930Trp | |
| XM_017027546.1:c.3317T>G | XP_016883035.1:p.Leu1106Trp | |
| NM_014727.3:c.6353T>G MANE Select | NP_055542.1:p.Leu2118Trp |