Linked Data
ClinVar Variation Id:
450128
ClinVar RCV Id:
RCV000522752
dbSNP Id:
rs1397811196
gnomAD v2:
X-70602870-G-T
gnomAD v4:
X-71383020-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.71383020G>T , CM000685.2:g.71383020G>T | GRCh38 |
| NC_000023.10:g.70602870G>T , CM000685.1:g.70602870G>T | GRCh37 |
| NC_000023.9:g.70519595G>T | NCBI36 |
| NG_012771.2:g.21757G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276072.9:c.1089G>T | ENSP00000276072.5:p.Gln363His | |
| ENST00000683202.1:c.1803G>T | ENSP00000507781.1:p.Gln601His | |
| ENST00000683668.1:c.1089G>T | ENSP00000507280.1:p.Gln363His | |
| ENST00000683715.1:c.1384G>T | ||
| ENST00000683782.1:c.1803G>T | ENSP00000506996.1:p.Gln601His | |
| ENST00000373790.9:c.1740G>T | ENSP00000362895.5:p.Gln580His | |
| ENST00000423759.6:c.1803G>T MANE Select | ENSP00000406549.2:p.Gln601His | |
| ENST00000276072.7:c.1863G>T | ENSP00000276072.3:p.Gln621His | |
| ENST00000373790.8:c.1800G>T | ENSP00000362895.4:p.Gln600His | |
| ENST00000423759.5:c.1863G>T | ENSP00000406549.1:p.Gln621His | |
| NM_001286074.1:c.1863G>T | NP_001273003.1:p.Gln621His | |
| NM_004606.4:c.1863G>T | NP_004597.2:p.Gln621His | |
| NM_138923.3:c.1800G>T | NP_620278.1:p.Gln600His | |
| NR_104387.1:n.1939G>T | ||
| NR_104388.1:n.1939G>T | ||
| NR_104389.1:n.1939G>T | ||
| NR_104390.1:n.1939G>T | ||
| NR_104391.1:n.1939G>T | ||
| NR_104392.1:n.1939G>T | ||
| NR_104393.1:n.1939G>T | ||
| NR_104394.1:n.1939G>T | ||
| NR_104395.1:n.1939G>T | ||
| XM_005262295.1:c.1863G>T | XP_005262352.1:p.Gln621His | |
| XM_005262296.1:c.1863G>T | XP_005262353.1:p.Gln621His | |
| XM_005262297.3:c.1800G>T | XP_005262354.1:p.Gln600His | |
| XM_005262300.1:c.1863G>T | XP_005262357.1:p.Gln621His | |
| XM_006724682.2:c.1482G>T | XP_006724745.1:p.Gln494His | |
| XM_011531016.1:c.1863G>T | XP_011529318.1:p.Gln621His | |
| XR_938407.1:n.1873G>T | ||
| XM_005262297.4:c.1800G>T | XP_005262354.1:p.Gln600His | |
| XM_005262300.2:c.1863G>T | XP_005262357.1:p.Gln621His | |
| XM_024452429.1:c.1482G>T | XP_024308197.1:p.Gln494His | |
| XM_024452430.1:c.1863G>T | XP_024308198.1:p.Gln621His | |
| NM_001286074.2:c.1803G>T | NP_001273003.2:p.Gln601His | |
| NM_004606.5:c.1803G>T MANE Select | NP_004597.3:p.Gln601His | |
| NM_138923.4:c.1740G>T | NP_620278.2:p.Gln580His | |
| NR_104387.2:n.1821G>T | ||
| NR_104388.2:n.1821G>T | ||
| NR_104389.2:n.1821G>T | ||
| NR_104390.2:n.1821G>T | ||
| NR_104391.2:n.1821G>T | ||
| NR_104392.2:n.1821G>T | ||
| NR_104393.2:n.1821G>T | ||
| NR_104394.2:n.1821G>T | ||
| NR_104395.2:n.1821G>T |