Linked Data
ClinVar Variation Id:
1371149
ClinVar RCV Id:
RCV001899514
dbSNP Id:
rs983449864
gnomAD v2:
1-197403988-C-T
gnomAD v3:
1-197434858-C-T
gnomAD v4:
1-197434858-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197434858C>T , CM000663.2:g.197434858C>T | GRCh38 |
| NC_000001.10:g.197403988C>T , CM000663.1:g.197403988C>T | GRCh37 |
| NC_000001.9:g.195670611C>T | NCBI36 |
| NG_008483.1:g.171581C>T | |
| NG_008483.2:g.238397C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367400.8:c.2995C>T MANE Select | ENSP00000356370.3:p.Leu999Phe | |
| ENST00000638467.1:c.2995C>T | ENSP00000491102.1:p.Leu999Phe | |
| ENST00000681519.1:c.1876C>T | ENSP00000505267.1:p.Leu626Phe | |
| ENST00000367397.1:c.1138C>T | ENSP00000356367.1:p.Leu380Phe | |
| ENST00000367399.6:c.2659C>T | ENSP00000356369.2:p.Leu887Phe | |
| ENST00000367400.7:c.2995C>T | ENSP00000356370.3:p.Leu999Phe | |
| ENST00000484075.5:c.2995C>T | ENSP00000433932.1:p.Leu999Phe | |
| ENST00000535699.5:c.2923C>T | ENSP00000438786.1:p.Leu975Phe | |
| ENST00000538660.5:c.2129-742C>T | ENSP00000438091.1:n.2129-742C>T | |
| NM_001193640.1:c.2659C>T | NP_001180569.1:p.Leu887Phe | |
| NM_001257965.1:c.2923C>T | NP_001244894.1:p.Leu975Phe | |
| NM_001257966.1:c.2129-742C>T | NP_001244895.1:n.2129-742C>T | |
| NM_201253.2:c.2995C>T | NP_957705.1:p.Leu999Phe | |
| NR_047563.1:n.2996C>T | ||
| NR_047564.1:n.3204C>T | ||
| XM_011509365.1:c.2995C>T | XP_011507667.1:p.Leu999Phe | |
| XM_011509366.1:c.2995C>T | XP_011507668.1:p.Leu999Phe | |
| XM_011509367.1:c.2995C>T | XP_011507669.1:p.Leu999Phe | |
| XM_011509368.1:c.2413C>T | XP_011507670.1:p.Leu805Phe | |
| XM_011509369.1:c.1438C>T | XP_011507671.1:p.Leu480Phe | |
| XM_011509365.2:c.2995C>T | XP_011507667.1:p.Leu999Phe | |
| XM_011509369.2:c.1438C>T | XP_011507671.1:p.Leu480Phe | |
| XM_017000851.1:c.2152C>T | XP_016856340.1:p.Leu718Phe | |
| XM_017000852.1:c.3130C>T | XP_016856341.1:p.Leu1044Phe | |
| NM_201253.3:c.2995C>T MANE Select | NP_957705.1:p.Leu999Phe | |
| NM_001193640.2:c.2659C>T | NP_001180569.1:p.Leu887Phe | |
| NM_001257965.2:c.2923C>T | NP_001244894.1:p.Leu975Phe | |
| NR_047563.2:n.2948C>T | ||
| NR_047564.2:n.3156C>T | ||
| NM_001257966.2:c.2129-742C>T | NP_001244895.1:n.2129-742C>T |