Linked Data
ClinVar Variation Id:
6645
ClinVar RCV Id:
RCV000007024
dbSNP Id:
rs121434411
gnomAD v2:
2-178357898-G-A
gnomAD v4:
2-177493170-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.177493170G>A , CM000664.2:g.177493170G>A | GRCh38 |
| NC_000002.11:g.178357898G>A , CM000664.1:g.178357898G>A | GRCh37 |
| NC_000002.10:g.178066144G>A | NCBI36 |
| NG_008968.1:g.105428G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264167.11:c.1256G>A MANE Select | ENSP00000264167.4:p.Arg419His | |
| ENST00000637633.2:c.1256G>A | ENSP00000490844.2:p.Arg419His | |
| ENST00000642466.2:c.1256G>A | ENSP00000494433.2:p.Arg419His | |
| ENST00000679421.1:n.2485G>A | ||
| ENST00000679459.1:c.1256G>A | ENSP00000506137.1:p.Arg419His | |
| ENST00000679478.1:c.986G>A | ENSP00000506484.1:p.Arg329His | |
| ENST00000679994.1:c.986G>A | ENSP00000504957.1:p.Arg329His | |
| ENST00000680028.1:n.2620G>A | ||
| ENST00000680155.1:c.986G>A | ENSP00000505333.1:p.Arg329His | |
| ENST00000680390.1:n.291G>A | ||
| ENST00000680705.1:n.1300G>A | ||
| ENST00000680770.1:c.1256G>A | ENSP00000505536.1:p.Arg419His | |
| ENST00000680893.1:c.*504G>A | ENSP00000505929.1:n.*504G>A | |
| ENST00000680910.1:n.1286G>A | ||
| ENST00000681028.1:c.986G>A | ENSP00000506323.1:p.Arg329His | |
| ENST00000681032.1:c.*634G>A | ENSP00000505205.1:n.*634G>A | |
| ENST00000681300.1:n.211G>A | ||
| ENST00000681449.1:c.986G>A | ENSP00000505342.1:p.Arg329His | |
| ENST00000681565.1:c.*389G>A | ENSP00000505620.1:n.*389G>A | |
| ENST00000681752.1:c.*1026G>A | ENSP00000504994.1:n.*1026G>A | |
| ENST00000681891.1:n.4891G>A | ||
| ENST00000264167.8:c.1256G>A | ENSP00000264167.4:p.Arg419His | |
| ENST00000409888.1:c.351-28159G>A | ENSP00000386688.1:n.351-28159G>A | |
| NM_003659.3:c.1256G>A | NP_003650.1:p.Arg419His | |
| XM_011512041.1:c.986G>A | XP_011510343.1:p.Arg329His | |
| XM_011512042.1:c.986G>A | XP_011510344.1:p.Arg329His | |
| XM_011512043.1:c.521G>A | XP_011510345.1:p.Arg174His | |
| XM_011512041.2:c.986G>A | XP_011510343.1:p.Arg329His | |
| XM_011512043.2:c.521G>A | XP_011510345.1:p.Arg174His | |
| XR_001739007.2:n.1164G>A | ||
| NM_003659.4:c.1256G>A MANE Select | NP_003650.1:p.Arg419His |