Linked Data
dbSNP Id:
rs377279882
ExAC:
9:4118749 C / G
gnomAD v2:
9-4118749-C-G
gnomAD v3:
9-4118749-C-G
gnomAD v4:
9-4118749-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.4118749C>G , CM000671.2:g.4118749C>G | GRCh38 |
| NC_000009.11:g.4118749C>G , CM000671.1:g.4118749C>G | GRCh37 |
| NC_000009.10:g.4108749C>G | NCBI36 |
| NG_011782.1:g.186287G>C | |
| NG_011782.2:g.186287G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000491889.6:c.*92G>C | ENSP00000419914.1:n.*92G>C | |
| ENST00000645252.2:n.152+32191G>C | ||
| ENST00000682749.1:c.264G>C | ENSP00000507306.1:p.Gln88His | |
| ENST00000682846.1:c.131+6985G>C | ENSP00000507527.1:n.131+6985G>C | |
| ENST00000381971.8:c.729G>C MANE Select | ENSP00000371398.3:p.Gln243His | |
| ENST00000645252.1:n.152+32191G>C | ||
| ENST00000324333.14:c.264G>C | ENSP00000325494.10:p.Gln88His | |
| ENST00000381971.7:c.729G>C | ENSP00000371398.3:p.Gln243His | |
| ENST00000462164.5:c.264G>C | ENSP00000418671.1:p.Gln88His | |
| ENST00000473846.5:n.488G>C | ||
| ENST00000477901.5:c.729G>C | ENSP00000417794.1:p.Gln243His | |
| ENST00000478315.5:c.264G>C | ENSP00000418995.1:p.Gln88His | |
| ENST00000478844.5:c.264G>C | ENSP00000418005.1:p.Gln88His | |
| ENST00000481827.5:c.729G>C | ENSP00000417883.1:p.Gln243His | |
| ENST00000490709.1:n.549G>C | ||
| ENST00000491889.5:c.*92G>C | ENSP00000419914.1:n.*92G>C | |
| NM_001042413.1:c.729G>C | NP_001035878.1:p.Gln243His | |
| NM_152629.3:c.264G>C | NP_689842.3:p.Gln88His | |
| XM_005251386.3:c.264G>C | XP_005251443.1:p.Gln88His | |
| XM_005251387.3:c.63G>C | XP_005251444.1:p.Gln21His | |
| XM_005251388.3:c.63G>C | XP_005251445.1:p.Gln21His | |
| XM_005251389.3:c.729G>C | XP_005251446.1:p.Gln243His | |
| XM_006716731.2:c.729G>C | XP_006716794.1:p.Gln243His | |
| XM_011517763.1:c.729G>C | XP_011516065.1:p.Gln243His | |
| XM_011517764.1:c.729G>C | XP_011516066.1:p.Gln243His | |
| XM_011517765.1:c.729G>C | XP_011516067.1:p.Gln243His | |
| XM_011517766.1:c.264G>C | XP_011516068.1:p.Gln88His | |
| XM_011517767.1:c.63G>C | XP_011516069.1:p.Gln21His | |
| XM_011517768.1:c.729G>C | XP_011516070.1:p.Gln243His | |
| XM_011517769.1:c.729G>C | XP_011516071.1:p.Gln243His | |
| XR_929206.1:n.1495G>C | ||
| XM_005251386.4:c.264G>C | XP_005251443.1:p.Gln88His | |
| XM_005251387.4:c.63G>C | XP_005251444.1:p.Gln21His | |
| XM_005251388.4:c.63G>C | XP_005251445.1:p.Gln21His | |
| XM_005251389.5:c.729G>C | XP_005251446.1:p.Gln243His | |
| XM_006716731.3:c.729G>C | XP_006716794.1:p.Gln243His | |
| XM_011517763.2:c.729G>C | XP_011516065.1:p.Gln243His | |
| XM_011517764.2:c.729G>C | XP_011516066.1:p.Gln243His | |
| XM_011517765.2:c.729G>C | XP_011516067.1:p.Gln243His | |
| XM_011517766.2:c.264G>C | XP_011516068.1:p.Gln88His | |
| XM_011517767.3:c.63G>C | XP_011516069.1:p.Gln21His | |
| XM_011517769.2:c.729G>C | XP_011516071.1:p.Gln243His | |
| XM_017014361.1:c.264G>C | XP_016869850.1:p.Gln88His | |
| XR_929206.2:n.1491G>C | ||
| NM_001042413.2:c.729G>C MANE Select | NP_001035878.1:p.Gln243His | |
| NM_152629.4:c.264G>C | NP_689842.3:p.Gln88His |