Linked Data
ClinVar Variation Id:
523626
dbSNP Id:
rs141893504
ExAC:
7:84651849 G / T
gnomAD v2:
7-84651849-G-T
gnomAD v3:
7-85022533-G-T
gnomAD v4:
7-85022533-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.85022533G>T , CM000669.2:g.85022533G>T | GRCh38 |
| NC_000007.13:g.84651849G>T , CM000669.1:g.84651849G>T | GRCh37 |
| NC_000007.12:g.84489785G>T | NCBI36 |
| NG_051329.1:g.169323C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284136.11:c.1272C>A MANE Select | ENSP00000284136.6:p.His424Gln | |
| ENST00000284136.10:c.1272C>A | ENSP00000284136.6:p.His424Gln | |
| ENST00000484038.1:n.398C>A | ||
| NM_152754.2:c.1272C>A | NP_689967.2:p.His424Gln | |
| XM_011515960.1:c.1272C>A | XP_011514262.1:p.His424Gln | |
| XM_011515961.1:c.690C>A | XP_011514263.1:p.His230Gln | |
| XM_011515962.1:c.189C>A | XP_011514264.1:p.His63Gln | |
| XM_011515961.2:c.690C>A | XP_011514263.1:p.His230Gln | |
| XM_017011873.1:c.1272C>A | XP_016867362.1:p.His424Gln | |
| NM_001384900.1:c.1272C>A MANE Select | NP_001371829.1:p.His424Gln | |
| NM_001384901.1:c.1272C>A | NP_001371830.1:p.His424Gln | |
| NM_001384902.1:c.1272C>A | NP_001371831.1:p.His424Gln | |
| NM_001384903.1:c.1272C>A | NP_001371832.1:p.His424Gln | |
| NM_152754.3:c.1272C>A | NP_689967.2:p.His424Gln |