Linked Data
ClinVar Variation Id:
99878
ClinVar RCV Id:
RCV000086318
RCV000153111
RCV000293077
RCV000318162
RCV000387362
RCV001275650
RCV001082958
RCV003453018
RCV003888497
dbSNP Id:
rs62636287
ExAC:
1:197396761 G / A
gnomAD v2:
1-197396761-G-A
gnomAD v3:
1-197427631-G-A
gnomAD v4:
1-197427631-G-A
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197427631G>A , CM000663.2:g.197427631G>A | GRCh38 |
| NC_000001.10:g.197396761G>A , CM000663.1:g.197396761G>A | GRCh37 |
| NC_000001.9:g.195663384G>A | NCBI36 |
| NG_008483.1:g.164354G>A | |
| NG_008483.2:g.231170G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367400.8:c.2306G>A MANE Select | ENSP00000356370.3:p.Arg769His | |
| ENST00000638467.1:c.2306G>A | ENSP00000491102.1:p.Arg769His | |
| ENST00000681519.1:c.1187G>A | ENSP00000505267.1:p.Arg396His | |
| ENST00000367397.1:c.449G>A | ENSP00000356367.1:p.Arg150His | |
| ENST00000367399.6:c.1970G>A | ENSP00000356369.2:p.Arg657His | |
| ENST00000367400.7:c.2306G>A | ENSP00000356370.3:p.Arg769His | |
| ENST00000480086.2:n.207G>A | ||
| ENST00000484075.5:c.2306G>A | ENSP00000433932.1:p.Arg769His | |
| ENST00000535699.5:c.2099G>A | ENSP00000438786.1:p.Arg700His | |
| ENST00000538660.5:c.2128+5675G>A | ENSP00000438091.1:n.2128+5675G>A | |
| NM_001193640.1:c.1970G>A | NP_001180569.1:p.Arg657His | |
| NM_001257965.1:c.2099G>A | NP_001244894.1:p.Arg700His | |
| NM_001257966.1:c.2128+5675G>A | NP_001244895.1:n.2128+5675G>A | |
| NM_201253.2:c.2306G>A | NP_957705.1:p.Arg769His | |
| NR_047563.1:n.2307G>A | ||
| NR_047564.1:n.2515G>A | ||
| XM_011509365.1:c.2306G>A | XP_011507667.1:p.Arg769His | |
| XM_011509366.1:c.2306G>A | XP_011507668.1:p.Arg769His | |
| XM_011509367.1:c.2306G>A | XP_011507669.1:p.Arg769His | |
| XM_011509368.1:c.1724G>A | XP_011507670.1:p.Arg575His | |
| XM_011509369.1:c.749G>A | XP_011507671.1:p.Arg250His | |
| XM_011509365.2:c.2306G>A | XP_011507667.1:p.Arg769His | |
| XM_011509369.2:c.749G>A | XP_011507671.1:p.Arg250His | |
| XM_017000851.1:c.1463G>A | XP_016856340.1:p.Arg488His | |
| XM_017000852.1:c.2306G>A | XP_016856341.1:p.Arg769His | |
| NM_201253.3:c.2306G>A MANE Select | NP_957705.1:p.Arg769His | |
| NM_001193640.2:c.1970G>A | NP_001180569.1:p.Arg657His | |
| NM_001257965.2:c.2099G>A | NP_001244894.1:p.Arg700His | |
| NR_047563.2:n.2259G>A | ||
| NR_047564.2:n.2467G>A | ||
| NM_001257966.2:c.2128+5675G>A | NP_001244895.1:n.2128+5675G>A |