Linked Data
ClinVar Variation Id:
95583
dbSNP Id:
rs62637017
ExAC:
17:6330327 A / G
gnomAD v2:
17-6330327-A-G
gnomAD v3:
17-6427007-A-G
gnomAD v4:
17-6427007-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6427007A>G , CM000679.2:g.6427007A>G | GRCh38 |
| NC_000017.10:g.6330327A>G , CM000679.1:g.6330327A>G | GRCh37 |
| NC_000017.9:g.6271051A>G | NCBI36 |
| NG_008474.1:g.13193T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381129.8:c.516T>C MANE Select | ENSP00000370521.3:p.His172= | |
| ENST00000250087.9:c.327T>C | ENSP00000250087.5:p.His109= | |
| ENST00000381128.2:c.*388T>C | ENSP00000370520.2:n.*388T>C | |
| ENST00000381129.7:c.516T>C | ENSP00000370521.3:p.His172= | |
| ENST00000570466.5:c.450T>C | ENSP00000461287.1:p.His150= | |
| ENST00000570584.5:c.251+6912T>C | ||
| ENST00000571740.5:c.492T>C | ENSP00000460134.1:p.His164= | |
| ENST00000574506.5:c.480T>C | ENSP00000458456.1:p.His160= | |
| ENST00000574913.1:c.528T>C | ENSP00000460672.1:p.His176= | |
| ENST00000575265.5:c.516T>C | ENSP00000459673.1:p.His172= | |
| ENST00000576307.5:c.336T>C | ENSP00000459522.1:p.His112= | |
| ENST00000576776.5:c.516T>C | ENSP00000460827.1:p.His172= | |
| ENST00000621374.4:c.516T>C | ENSP00000481337.1:p.His172= | |
| NM_001033054.2:c.327T>C | NP_001028226.1:p.His109= | |
| NM_001033055.2:c.336T>C | NP_001028227.1:p.His112= | |
| NM_001285399.2:c.480T>C | NP_001272328.1:p.His160= | |
| NM_001285400.2:c.450T>C | NP_001272329.1:p.His150= | |
| NM_001285401.2:c.516T>C | NP_001272330.1:p.His172= | |
| NM_001285402.1:c.399T>C | NP_001272331.1:p.His133= | |
| NM_001285403.2:c.492T>C | NP_001272332.1:p.His164= | |
| NM_014336.4:c.516T>C | NP_055151.3:p.His172= | |
| NM_001033054.3:c.327T>C | NP_001028226.1:p.His109= | |
| NM_001033055.3:c.336T>C | NP_001028227.1:p.His112= | |
| NM_001285399.3:c.480T>C | NP_001272328.1:p.His160= | |
| NM_001285400.3:c.450T>C | NP_001272329.1:p.His150= | |
| NM_001285401.3:c.516T>C | NP_001272330.1:p.His172= | |
| NM_001285402.2:c.399T>C | NP_001272331.1:p.His133= | |
| NM_001285403.3:c.492T>C | NP_001272332.1:p.His164= | |
| NM_014336.5:c.516T>C MANE Select | NP_055151.3:p.His172= | |
| NM_001285403.4:c.492T>C | NP_001272332.1:p.His164= |