Linked Data
dbSNP Id:
rs375117193
ExAC:
10:103534579 A / G
gnomAD v2:
10-103534579-A-G
gnomAD v4:
10-101774822-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.101774822A>G , CM000672.2:g.101774822A>G | GRCh38 |
| NC_000010.10:g.103534579A>G , CM000672.1:g.103534579A>G | GRCh37 |
| NC_000010.9:g.103524569A>G | NCBI36 |
| NG_007151.1:g.6249T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320185.7:c.247T>C MANE Select | ENSP00000321797.2:p.Tyr83His | |
| ENST00000618991.5:c.-66T>C | ENSP00000484420.1:n.-66T>C | |
| ENST00000344255.8:c.214T>C | ENSP00000340039.3:p.Tyr72His | |
| ENST00000320185.6:c.247T>C | ENSP00000321797.2:p.Tyr83His | |
| ENST00000344255.7:c.214T>C | ENSP00000340039.3:p.Tyr72His | |
| ENST00000346714.7:c.127T>C | ENSP00000344306.3:p.Tyr43His | |
| ENST00000347978.2:c.160T>C | ENSP00000321945.2:p.Tyr54His | |
| ENST00000469792.6:c.*211T>C | ENSP00000473299.1:n.*211T>C | |
| ENST00000485728.1:n.123T>C | ||
| ENST00000618991.4:c.-66T>C | ENSP00000484420.1:n.-66T>C | |
| NM_001206389.1:c.-66T>C | NP_001193318.1:n.-66T>C | |
| NM_006119.4:c.160T>C | NP_006110.1:p.Tyr54His | |
| NM_033163.3:c.247T>C | NP_149353.1:p.Tyr83His | |
| NM_033164.3:c.214T>C | NP_149354.1:p.Tyr72His | |
| NM_033165.3:c.127T>C | NP_149355.1:p.Tyr43His | |
| XM_011539509.1:c.169T>C | XP_011537811.1:p.Tyr57His | |
| NM_006119.5:c.160T>C | NP_006110.1:p.Tyr54His | |
| NM_033163.4:c.247T>C | NP_149353.1:p.Tyr83His | |
| NM_033164.4:c.214T>C | NP_149354.1:p.Tyr72His | |
| NM_033165.4:c.127T>C | NP_149355.1:p.Tyr43His | |
| NM_001206389.2:c.-66T>C | NP_001193318.1:n.-66T>C | |
| NM_006119.6:c.160T>C | NP_006110.1:p.Tyr54His | |
| NM_033163.5:c.247T>C MANE Select | NP_149353.1:p.Tyr83His | |
| NM_033165.5:c.127T>C | NP_149355.1:p.Tyr43His |