Linked Data
dbSNP Id:
rs762435393
ExAC:
17:73520394 G / C
gnomAD v2:
17-73520394-G-C
gnomAD v4:
17-75524313-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75524313G>C , CM000679.2:g.75524313G>C | GRCh38 |
| NC_000017.10:g.73520394G>C , CM000679.1:g.73520394G>C | GRCh37 |
| NC_000017.9:g.71031989G>C | NCBI36 |
| NG_013041.1:g.12786G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333213.11:c.1482G>C MANE Select | ENSP00000327487.6:p.Gln494His | |
| ENST00000434205.8:c.1179G>C | ENSP00000406559.4:p.Gln393His | |
| ENST00000545228.3:c.1670G>C | ENSP00000438169.3:p.Arg557Thr | |
| ENST00000577197.2:n.680G>C | ||
| ENST00000579449.2:n.2222G>C | ||
| ENST00000580013.6:n.2626G>C | ||
| ENST00000679370.1:n.3004G>C | ||
| ENST00000679429.1:c.*940G>C | ENSP00000505403.1:n.*940G>C | |
| ENST00000679443.1:n.1551G>C | ||
| ENST00000679782.1:c.*181G>C | ENSP00000505995.1:n.*181G>C | |
| ENST00000679919.1:n.1753G>C | ||
| ENST00000679928.1:c.*2034G>C | ENSP00000506071.1:n.*2034G>C | |
| ENST00000680528.1:n.2448G>C | ||
| ENST00000680999.1:c.1695G>C | ENSP00000504984.1:p.Gln565His | |
| ENST00000681282.1:c.*1669G>C | ENSP00000506339.1:n.*1669G>C | |
| ENST00000333213.10:c.1482G>C | ENSP00000327487.6:p.Gln494His | |
| ENST00000545228.2:c.759G>C | ||
| ENST00000577197.1:n.230G>C | ||
| ENST00000579449.1:n.679G>C | ||
| NM_207346.2:c.1482G>C | NP_997229.2:p.Gln494His | |
| XM_005257229.2:c.1670G>C | XP_005257286.1:p.Arg557Thr | |
| XM_006721821.2:c.1367G>C | XP_006721884.1:p.Arg456Thr | |
| XM_011524616.1:c.1553G>C | XP_011522918.1:p.Arg518Thr | |
| XM_011524617.1:c.*64G>C | XP_011522919.1:n.*64G>C | |
| XM_011524618.1:c.1365G>C | XP_011522920.1:p.Gln455His | |
| XR_243646.2:n.1714G>C | ||
| XM_005257229.4:c.1670G>C | XP_005257286.1:p.Arg557Thr | |
| XR_001753015.1:n.85C>G | ||
| XR_001753016.1:n.86C>G | ||
| XR_243646.4:n.1720G>C | ||
| NM_207346.3:c.1482G>C MANE Select | NP_997229.2:p.Gln494His |