Linked Data
dbSNP Id:
rs766286407
gnomAD v2:
9-117166344-G-C
gnomAD v3:
9-114404064-G-C
gnomAD v4:
9-114404064-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.114404064G>C , CM000671.2:g.114404064G>C | GRCh38 |
| NC_000009.11:g.117166344G>C , CM000671.1:g.117166344G>C | GRCh37 |
| NC_000009.10:g.116206165G>C | NCBI36 |
| NG_016700.1:g.106393C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699485.1:c.594C>G | ENSP00000514396.1:p.Leu198= | |
| ENST00000362057.4:c.2250C>G MANE Select | ENSP00000354623.3:p.Leu750= | |
| ENST00000674036.8:c.1223C>G | ||
| ENST00000674048.1:n.2131C>G | ||
| ENST00000265134.10:c.1101C>G | ENSP00000265134.6:p.Leu367= | |
| ENST00000362057.3:c.2250C>G | ENSP00000354623.3:p.Leu750= | |
| ENST00000374059.7:c.1197C>G | ENSP00000363172.3:p.Leu399= | |
| NM_001083885.2:c.1101C>G | NP_001077354.2:p.Leu367= | |
| NM_001173425.1:c.2247C>G | NP_001166896.1:p.Leu749= | |
| NM_015404.3:c.2250C>G | NP_056219.3:p.Leu750= | |
| XM_005251897.3:c.1587C>G | XP_005251954.2:p.Leu529= | |
| XM_011518484.1:c.2283C>G | XP_011516786.1:p.Leu761= | |
| XM_011518485.1:c.2283C>G | XP_011516787.1:p.Leu761= | |
| XM_011518486.1:c.2280C>G | XP_011516788.1:p.Leu760= | |
| XM_011518487.1:c.2157C>G | XP_011516789.1:p.Leu719= | |
| XM_011518488.1:c.2040C>G | XP_011516790.1:p.Leu680= | |
| XM_011518495.1:c.960C>G | XP_011516797.1:p.Leu320= | |
| XR_929747.1:n.3187C>G | ||
| XR_929748.1:n.3085C>G | ||
| NM_001346890.1:c.1197C>G | NP_001333819.1:p.Leu399= | |
| XM_011518486.2:c.2280C>G | XP_011516788.1:p.Leu760= | |
| XM_011518487.2:c.2157C>G | XP_011516789.1:p.Leu719= | |
| XM_011518488.2:c.2040C>G | XP_011516790.1:p.Leu680= | |
| XR_929747.2:n.2498C>G | ||
| XR_929748.2:n.2396C>G | ||
| NM_015404.4:c.2250C>G MANE Select | NP_056219.3:p.Leu750= | |
| NM_001173425.2:c.2247C>G | NP_001166896.1:p.Leu749= | |
| NM_001083885.3:c.1101C>G | NP_001077354.2:p.Leu367= |