Linked Data
dbSNP Id:
rs11568634
ExAC:
11:62746960 C / T
gnomAD v2:
11-62746960-C-T
gnomAD v3:
11-62979488-C-T
gnomAD v4:
11-62979488-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.62979488C>T , CM000673.2:g.62979488C>T | GRCh38 |
| NC_000011.9:g.62746960C>T , CM000673.1:g.62746960C>T | GRCh37 |
| NC_000011.8:g.62503536C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360421.9:c.1361G>A MANE Select | ENSP00000353597.4:p.Arg454Gln | |
| ENST00000360421.8:c.1361G>A | ENSP00000353597.4:p.Arg454Gln | |
| ENST00000377871.7:c.1361G>A | ENSP00000367102.3:p.Arg454Gln | |
| ENST00000421062.2:c.1361G>A | ENSP00000404441.2:p.Arg454His | |
| ENST00000458333.6:c.1361G>A | ENSP00000396401.2:p.Arg454His | |
| ENST00000540654.5:c.*552G>A | ENSP00000445946.1:n.*552G>A | |
| NM_004790.4:c.1361G>A | NP_004781.2:p.Arg454Gln | |
| NM_153276.2:c.1361G>A | NP_695008.1:p.Arg454Gln | |
| NM_153277.2:c.1361G>A | NP_695009.1:p.Arg454His | |
| NM_153278.2:c.1361G>A | NP_695010.1:p.Arg454His | |
| XM_017018562.2:c.1364G>A | XP_016874051.1:p.Arg455Gln | |
| NM_004790.5:c.1361G>A | NP_004781.2:p.Arg454Gln | |
| NM_153276.3:c.1361G>A MANE Select | NP_695008.1:p.Arg454Gln | |
| NM_153277.3:c.1361G>A | NP_695009.1:p.Arg454His | |
| NM_153278.3:c.1361G>A | NP_695010.1:p.Arg454His |