Linked Data
ClinVar Variation Id:
36176
dbSNP Id:
rs193922264
gnomAD v4:
7-44145620-C-T
ERepo:
CA213715/MONDO:0015967/086
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44145620C>T , CM000669.2:g.44145620C>T | GRCh38 |
| NC_000007.13:g.44185219C>T , CM000669.1:g.44185219C>T | GRCh37 |
| NC_000007.12:g.44151744C>T | NCBI36 |
| NG_008847.1:g.48804G>A | |
| NG_008847.2:g.57551G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395796.8:c.*1128G>A | ENSP00000379142.4:n.*1128G>A | |
| ENST00000616242.5:c.*250G>A | ENSP00000482149.2:n.*250G>A | |
| ENST00000683378.1:n.356G>A | ||
| ENST00000336642.9:c.164G>A | ENSP00000338009.5:p.Arg55His | |
| ENST00000345378.7:c.1133G>A | ENSP00000223366.2:p.Arg378His | |
| ENST00000403799.8:c.1130G>A MANE Select | ENSP00000384247.3:p.Arg377His | |
| ENST00000671824.1:c.1193G>A | ENSP00000500264.1:p.Arg398His | |
| ENST00000672743.1:n.142G>A | ||
| ENST00000673284.1:c.1130G>A | ENSP00000499852.1:p.Arg377His | |
| ENST00000336642.8:c.182G>A | ENSP00000338009.4:p.Arg61His | |
| ENST00000345378.6:c.1133G>A | ENSP00000223366.2:p.Arg378His | |
| ENST00000395796.7:c.1127G>A | ENSP00000379142.3:p.Arg376His | |
| ENST00000403799.7:c.1130G>A | ENSP00000384247.3:p.Arg377His | |
| ENST00000437084.1:c.1079G>A | ENSP00000402840.1:p.Arg360His | |
| ENST00000459642.1:n.510G>A | ||
| ENST00000616242.4:c.1127G>A | ENSP00000482149.1:p.Arg376His | |
| NM_000162.3:c.1130G>A | NP_000153.1:p.Arg377His | |
| NM_033507.1:c.1133G>A | NP_277042.1:p.Arg378His | |
| NM_033508.1:c.1127G>A | NP_277043.1:p.Arg376His | |
| NM_000162.4:c.1130G>A | NP_000153.1:p.Arg377His | |
| NM_001354800.1:c.1130G>A | NP_001341729.1:p.Arg377His | |
| NM_001354801.1:c.119G>A | NP_001341730.1:p.Arg40His | |
| NM_001354802.1:c.-11G>A | NP_001341731.1:n.-11G>A | |
| NM_001354803.1:c.164G>A | NP_001341732.1:p.Arg55His | |
| NM_033507.2:c.1133G>A | NP_277042.1:p.Arg378His | |
| NM_033508.2:c.1127G>A | NP_277043.1:p.Arg376His | |
| XM_024446707.1:c.-11G>A | XP_024302475.1:n.-11G>A | |
| NM_000162.5:c.1130G>A MANE Select | NP_000153.1:p.Arg377His | |
| NM_033507.3:c.1133G>A | NP_277042.1:p.Arg378His | |
| NM_033508.3:c.1127G>A | NP_277043.1:p.Arg376His | |
| NM_001354803.2:c.164G>A | NP_001341732.1:p.Arg55His |