Linked Data
dbSNP Id:
rs746949898
ExAC:
6:52344488 T / C
gnomAD v2:
6-52344488-T-C
gnomAD v4:
6-52479690-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.52479690T>C , CM000668.2:g.52479690T>C | GRCh38 |
| NC_000006.11:g.52344488T>C , CM000668.1:g.52344488T>C | GRCh37 |
| NC_000006.10:g.52452447T>C | NCBI36 |
| NG_016760.1:g.64495T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371068.11:c.1543T>C MANE Select | ENSP00000360107.4:p.Tyr515His | |
| ENST00000480623.6:c.1543T>C | ENSP00000434498.2:p.Tyr515His | |
| ENST00000635760.1:c.1219T>C | ENSP00000489765.1:p.Tyr407His | |
| ENST00000635812.1:c.*844T>C | ENSP00000490859.1:n.*844T>C | |
| ENST00000635866.1:c.*1412T>C | ENSP00000489866.1:n.*1412T>C | |
| ENST00000635911.1:n.3061T>C | ||
| ENST00000635984.1:c.1219T>C | ENSP00000489921.1:p.Tyr407His | |
| ENST00000635996.1:c.1543T>C | ENSP00000490256.1:p.Tyr515His | |
| ENST00000636107.1:c.1543T>C | ENSP00000489680.1:p.Tyr515His | |
| ENST00000636311.1:n.1437T>C | ||
| ENST00000636343.1:c.1209T>C | ||
| ENST00000636379.1:c.1255T>C | ENSP00000490622.1:p.Tyr419His | |
| ENST00000636398.1:c.1243T>C | ENSP00000489654.1:n.1243T>C | |
| ENST00000636489.1:c.1486T>C | ENSP00000489998.1:p.Tyr496His | |
| ENST00000636616.1:n.1104T>C | ||
| ENST00000636702.1:c.1513T>C | ENSP00000489623.1:p.Tyr505His | |
| ENST00000636954.1:c.1486T>C | ENSP00000489966.1:p.Tyr496His | |
| ENST00000637089.1:c.1543T>C | ENSP00000489854.1:p.Tyr515His | |
| ENST00000637121.1:n.1345T>C | ||
| ENST00000637263.1:c.1543T>C | ENSP00000489700.1:p.Tyr515His | |
| ENST00000637340.1:n.3468T>C | ||
| ENST00000637353.1:c.1543T>C | ENSP00000490441.1:p.Tyr515His | |
| ENST00000637602.1:c.*1244T>C | ENSP00000490074.1:n.*1244T>C | |
| ENST00000637849.1:n.1607T>C | ||
| ENST00000637874.1:c.488T>C | ENSP00000490348.1:n.488T>C | |
| ENST00000637892.1:n.1747T>C | ||
| ENST00000371068.9:c.1543T>C | ENSP00000360107.4:p.Tyr515His | |
| ENST00000480623.5:c.*1963T>C | ENSP00000434498.1:n.*1963T>C | |
| ENST00000538167.2:c.1486T>C | ENSP00000444521.1:p.Tyr496His | |
| NM_001172420.1:c.1486T>C | NP_001165891.1:p.Tyr496His | |
| NM_018100.3:c.1543T>C | NP_060570.2:p.Tyr515His | |
| NR_033327.1:n.3015T>C | ||
| NM_018100.4:c.1543T>C MANE Select | NP_060570.2:p.Tyr515His | |
| NM_001172420.2:c.1486T>C | NP_001165891.1:p.Tyr496His | |
| NR_033327.2:n.2869T>C |