Linked Data
dbSNP Id:
rs139139482
gnomAD v2:
17-39768472-G-T
gnomAD v3:
17-41612220-G-T
gnomAD v4:
17-41612220-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41612220G>T , CM000679.2:g.41612220G>T | GRCh38 |
| NC_000017.10:g.39768472G>T , CM000679.1:g.39768472G>T | GRCh37 |
| NC_000017.9:g.37021998G>T | NCBI36 |
| NG_008301.1:g.5608C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301653.9:c.469C>A MANE Select | ENSP00000301653.3:p.Arg157= | |
| ENST00000301653.8:c.469C>A | ENSP00000301653.3:p.Arg157= | |
| ENST00000588319.1:n.546C>A | ||
| ENST00000593067.1:c.-246C>A | ENSP00000467124.1:n.-246C>A | |
| NM_005557.3:c.469C>A | NP_005548.2:p.Arg157= | |
| NM_005557.4:c.469C>A MANE Select | NP_005548.2:p.Arg157= |