Linked Data
dbSNP Id:
rs375921716
ExAC:
17:41061422 T / G
gnomAD v2:
17-41061422-T-G
gnomAD v3:
17-42909405-T-G
gnomAD v4:
17-42909405-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42909405T>G , CM000679.2:g.42909405T>G | GRCh38 |
| NC_000017.10:g.41061422T>G , CM000679.1:g.41061422T>G | GRCh37 |
| NC_000017.9:g.38314948T>G | NCBI36 |
| NG_011808.1:g.13608T>G , LRG_147:g.13608T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253801.7:c.549T>G MANE Select | ENSP00000253801.1:p.Ala183= | |
| ENST00000253801.6:c.549T>G | ENSP00000253801.1:p.Ala183= | |
| ENST00000585489.1:c.447-1510T>G | ENSP00000466202.1:n.447-1510T>G | |
| ENST00000592383.5:c.472T>G | ENSP00000465958.1:p.Trp158Gly | |
| NM_000151.3:c.549T>G | NP_000142.2:p.Ala183= | |
| NM_001270397.1:c.472T>G | NP_001257326.1:p.Trp158Gly | |
| NM_000151.4:c.549T>G MANE Select | NP_000142.2:p.Ala183= | |
| NM_001270397.2:c.472T>G | NP_001257326.1:p.Trp158Gly |