Linked Data
ClinVar Variation Id:
2554906
ClinVar RCV Id:
RCV003277782
dbSNP Id:
rs1189788323
gnomAD v2:
1-197390753-C-T
gnomAD v3:
1-197421623-C-T
gnomAD v4:
1-197421623-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197421623C>T , CM000663.2:g.197421623C>T | GRCh38 |
| NC_000001.10:g.197390753C>T , CM000663.1:g.197390753C>T | GRCh37 |
| NC_000001.9:g.195657376C>T | NCBI36 |
| NG_008483.1:g.158346C>T | |
| NG_008483.2:g.225162C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367400.8:c.1795C>T MANE Select | ENSP00000356370.3:p.Leu599Phe | |
| ENST00000638467.1:c.1795C>T | ENSP00000491102.1:p.Leu599Phe | |
| ENST00000681519.1:c.676C>T | ENSP00000505267.1:p.Leu226Phe | |
| ENST00000367397.1:c.-63C>T | ENSP00000356367.1:n.-63C>T | |
| ENST00000367399.6:c.1459C>T | ENSP00000356369.2:p.Leu487Phe | |
| ENST00000367400.7:c.1795C>T | ENSP00000356370.3:p.Leu599Phe | |
| ENST00000484075.5:c.1795C>T | ENSP00000433932.1:p.Leu599Phe | |
| ENST00000535699.5:c.1588C>T | ENSP00000438786.1:p.Leu530Phe | |
| ENST00000538660.5:c.1795C>T | ENSP00000438091.1:p.Leu599Phe | |
| NM_001193640.1:c.1459C>T | NP_001180569.1:p.Leu487Phe | |
| NM_001257965.1:c.1588C>T | NP_001244894.1:p.Leu530Phe | |
| NM_001257966.1:c.1795C>T | NP_001244895.1:p.Leu599Phe | |
| NM_201253.2:c.1795C>T | NP_957705.1:p.Leu599Phe | |
| NR_047563.1:n.1922+82C>T | ||
| NR_047564.1:n.2004C>T | ||
| XM_011509365.1:c.1795C>T | XP_011507667.1:p.Leu599Phe | |
| XM_011509366.1:c.1795C>T | XP_011507668.1:p.Leu599Phe | |
| XM_011509367.1:c.1795C>T | XP_011507669.1:p.Leu599Phe | |
| XM_011509368.1:c.1213C>T | XP_011507670.1:p.Leu405Phe | |
| XM_011509369.1:c.238C>T | XP_011507671.1:p.Leu80Phe | |
| XM_011509365.2:c.1795C>T | XP_011507667.1:p.Leu599Phe | |
| XM_011509369.2:c.238C>T | XP_011507671.1:p.Leu80Phe | |
| XM_017000851.1:c.952C>T | XP_016856340.1:p.Leu318Phe | |
| XM_017000852.1:c.1795C>T | XP_016856341.1:p.Leu599Phe | |
| NM_201253.3:c.1795C>T MANE Select | NP_957705.1:p.Leu599Phe | |
| NM_001193640.2:c.1459C>T | NP_001180569.1:p.Leu487Phe | |
| NM_001257965.2:c.1588C>T | NP_001244894.1:p.Leu530Phe | |
| NR_047563.2:n.1874+82C>T | ||
| NR_047564.2:n.1956C>T | ||
| NM_001257966.2:c.1795C>T | NP_001244895.1:p.Leu599Phe |