Linked Data
dbSNP Id:
rs758232327
ExAC:
17:41063480 A / T
gnomAD v2:
17-41063480-A-T
gnomAD v4:
17-42911463-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42911463A>T , CM000679.2:g.42911463A>T | GRCh38 |
| NC_000017.10:g.41063480A>T , CM000679.1:g.41063480A>T | GRCh37 |
| NC_000017.9:g.38317006A>T | NCBI36 |
| NG_011808.1:g.15666A>T , LRG_147:g.15666A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253801.7:c.*37A>T MANE Select | ENSP00000253801.1:n.*37A>T | |
| ENST00000253801.6:c.*37A>T | ENSP00000253801.1:n.*37A>T | |
| ENST00000585489.1:c.*503A>T | ENSP00000466202.1:n.*503A>T | |
| NM_000151.3:c.*37A>T | NP_000142.2:n.*37A>T | |
| NM_001270397.1:c.*503A>T | NP_001257326.1:n.*503A>T | |
| NM_000151.4:c.*37A>T MANE Select | NP_000142.2:n.*37A>T | |
| NM_001270397.2:c.*503A>T | NP_001257326.1:n.*503A>T |