Linked Data
ClinVar Variation Id:
265083
ClinVar RCV Id:
RCV000255600
RCV000656138
RCV001075823
RCV001040337
RCV001542640
RCV002500956
RCV003454773
RCV003454774
dbSNP Id:
rs764256655
ExAC:
1:197298065 G / T
gnomAD v2:
1-197298065-G-T
gnomAD v3:
1-197328935-G-T
gnomAD v4:
1-197328935-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197328935G>T , CM000663.2:g.197328935G>T | GRCh38 |
| NC_000001.10:g.197298065G>T , CM000663.1:g.197298065G>T | GRCh37 |
| NC_000001.9:g.195564688G>T | NCBI36 |
| NG_008483.1:g.65658G>T | |
| NG_008483.2:g.132474G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367400.8:c.584G>T MANE Select | ENSP00000356370.3:p.Cys195Phe | |
| ENST00000638467.1:c.584G>T | ENSP00000491102.1:p.Cys195Phe | |
| ENST00000367399.6:c.584G>T | ENSP00000356369.2:p.Cys195Phe | |
| ENST00000367400.7:c.584G>T | ENSP00000356370.3:p.Cys195Phe | |
| ENST00000475659.1:n.721G>T | ||
| ENST00000484075.5:c.584G>T | ENSP00000433932.1:p.Cys195Phe | |
| ENST00000535699.5:c.377G>T | ENSP00000438786.1:p.Cys126Phe | |
| ENST00000538660.5:c.584G>T | ENSP00000438091.1:p.Cys195Phe | |
| NM_001193640.1:c.584G>T | NP_001180569.1:p.Cys195Phe | |
| NM_001257965.1:c.377G>T | NP_001244894.1:p.Cys126Phe | |
| NM_001257966.1:c.584G>T | NP_001244895.1:p.Cys195Phe | |
| NM_201253.2:c.584G>T | NP_957705.1:p.Cys195Phe | |
| NR_047563.1:n.793G>T | ||
| NR_047564.1:n.793G>T | ||
| XM_011509365.1:c.584G>T | XP_011507667.1:p.Cys195Phe | |
| XM_011509366.1:c.584G>T | XP_011507668.1:p.Cys195Phe | |
| XM_011509367.1:c.584G>T | XP_011507669.1:p.Cys195Phe | |
| XM_011509368.1:c.71-15346G>T | XP_011507670.1:n.71-15346G>T | |
| XM_011509365.2:c.584G>T | XP_011507667.1:p.Cys195Phe | |
| XM_017000851.1:c.-120G>T | XP_016856340.1:n.-120G>T | |
| XM_017000852.1:c.584G>T | XP_016856341.1:p.Cys195Phe | |
| NM_201253.3:c.584G>T MANE Select | NP_957705.1:p.Cys195Phe | |
| NM_001193640.2:c.584G>T | NP_001180569.1:p.Cys195Phe | |
| NM_001257965.2:c.377G>T | NP_001244894.1:p.Cys126Phe | |
| NR_047563.2:n.745G>T | ||
| NR_047564.2:n.745G>T | ||
| NM_001257966.2:c.584G>T | NP_001244895.1:p.Cys195Phe |