Linked Data
dbSNP Id:
rs1349117218
gnomAD v2:
6-7585689-C-T
gnomAD v3:
6-7585456-C-T
gnomAD v4:
6-7585456-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7585456C>T , CM000668.2:g.7585456C>T | GRCh38 |
| NC_000006.11:g.7585689C>T , CM000668.1:g.7585689C>T | GRCh37 |
| NC_000006.10:g.7530688C>T | NCBI36 |
| NG_008803.1:g.48820C>T , LRG_423:g.48820C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710359.1:c.6865C>T | ENSP00000518230.1:p.Leu2289Phe | |
| ENST00000379802.8:c.8194C>T MANE Select | ENSP00000369129.3:p.Leu2732Phe | |
| ENST00000379802.7:c.8194C>T | ENSP00000369129.3:p.Leu2732Phe | |
| ENST00000418664.2:c.6397C>T | ENSP00000396591.2:p.Leu2133Phe | |
| NM_001008844.1:c.6397C>T | NP_001008844.1:p.Leu2133Phe | |
| NM_004415.2:c.8194C>T , LRG_423t1:c.8194C>T | NP_004406.2:p.Leu2732Phe | |
| XM_011514323.1:c.6865C>T | XP_011512625.1:p.Leu2289Phe | |
| NM_001008844.2:c.6397C>T | NP_001008844.1:p.Leu2133Phe | |
| NM_001319034.1:c.6865C>T | NP_001305963.1:p.Leu2289Phe | |
| NM_004415.3:c.8194C>T | NP_004406.2:p.Leu2732Phe | |
| NM_004415.4:c.8194C>T MANE Select | NP_004406.2:p.Leu2732Phe | |
| NM_001008844.3:c.6397C>T | NP_001008844.1:p.Leu2133Phe | |
| NM_001319034.2:c.6865C>T | NP_001305963.1:p.Leu2289Phe |