Linked Data
ClinVar Variation Id:
573507
ClinVar RCV Id:
RCV000695200
dbSNP Id:
rs1334119558
gnomAD v2:
X-18646496-G-T
gnomAD v3:
X-18628376-G-T
gnomAD v4:
X-18628376-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.18628376G>T , CM000685.2:g.18628376G>T | GRCh38 |
| NC_000023.10:g.18646496G>T , CM000685.1:g.18646496G>T | GRCh37 |
| NC_000023.9:g.18556417G>T | NCBI36 |
| NG_008475.1:g.207772G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000623535.2:c.2502G>T MANE Select | ENSP00000485244.1:p.Gln834His | |
| ENST00000674046.1:c.2625G>T | ENSP00000501174.1:p.Gln875His | |
| ENST00000379989.6:c.2502G>T | ENSP00000369325.3:p.Gln834His | |
| ENST00000379996.7:c.2502G>T | ENSP00000369332.3:p.Gln834His | |
| ENST00000623535.1:c.2502G>T | ENSP00000485244.1:p.Gln834His | |
| NM_001037343.1:c.2502G>T | NP_001032420.1:p.Gln834His | |
| NM_003159.2:c.2502G>T | NP_003150.1:p.Gln834His | |
| XM_011545569.1:c.2574G>T | XP_011543871.1:p.Gln858His | |
| XM_011545570.1:c.2493G>T | XP_011543872.1:p.Gln831His | |
| XR_950484.1:n.2877G>T | ||
| NM_001323289.1:c.2502G>T | NP_001310218.1:p.Gln834His | |
| NM_001323289.2:c.2502G>T MANE Select | NP_001310218.1:p.Gln834His | |
| NM_001037343.2:c.2502G>T | NP_001032420.1:p.Gln834His | |
| NM_003159.3:c.2502G>T | NP_003150.1:p.Gln834His |