Linked Data
dbSNP Id:
rs757533799
ExAC:
6:42937628 A / G
gnomAD v2:
6-42937628-A-G
gnomAD v3:
6-42969890-A-G
gnomAD v4:
6-42969890-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42969890A>G , CM000668.2:g.42969890A>G | GRCh38 |
| NC_000006.11:g.42937628A>G , CM000668.1:g.42937628A>G | GRCh37 |
| NC_000006.10:g.43045606A>G | NCBI36 |
| NG_008370.1:g.14354T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304611.13:c.1228T>C MANE Select | ENSP00000303511.8:p.Tyr410His | |
| ENST00000244546.4:c.1228T>C | ENSP00000244546.4:p.Tyr410His | |
| ENST00000304611.12:c.1228T>C | ENSP00000303511.8:p.Tyr410His | |
| NM_000287.3:c.1228T>C | NP_000278.3:p.Tyr410His | |
| NM_001316313.1:c.964T>C | NP_001303242.1:p.Tyr322His | |
| NR_133009.1:n.1321T>C | ||
| XM_011514661.1:c.1144T>C | XP_011512963.1:p.Tyr382His | |
| XR_926246.1:n.1321T>C | ||
| XM_011514661.2:c.1144T>C | XP_011512963.1:p.Tyr382His | |
| XR_001743466.2:n.2302T>C | ||
| NM_000287.4:c.1228T>C MANE Select | NP_000278.3:p.Tyr410His | |
| NM_001316313.2:c.964T>C | NP_001303242.1:p.Tyr322His | |
| NR_133009.2:n.1259T>C |