Linked Data
dbSNP Id:
rs749686612
ExAC:
9:95481657 A / G
gnomAD v2:
9-95481657-A-G
gnomAD v4:
9-92719375-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.92719375A>G , CM000671.2:g.92719375A>G | GRCh38 |
| NC_000009.11:g.95481657A>G , CM000671.1:g.95481657A>G | GRCh37 |
| NC_000009.10:g.94521478A>G | NCBI36 |
| NG_033908.1:g.50427T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356884.11:c.1270T>C MANE Select | ENSP00000349351.6:p.Tyr424His | |
| ENST00000356884.10:c.1270T>C | ENSP00000349351.6:p.Tyr424His | |
| ENST00000375512.3:c.1270T>C | ENSP00000364662.3:p.Tyr424His | |
| NM_001003800.1:c.1270T>C | NP_001003800.1:p.Tyr424His | |
| NM_015250.3:c.1270T>C | NP_056065.1:p.Tyr424His | |
| XM_017014551.1:c.1351T>C | XP_016870040.1:p.Tyr451His | |
| NM_001003800.2:c.1270T>C MANE Select | NP_001003800.1:p.Tyr424His | |
| NM_015250.4:c.1270T>C | NP_056065.1:p.Tyr424His |