Linked Data
dbSNP Id:
rs749045090
ExAC:
17:39768511 C / T
gnomAD v2:
17-39768511-C-T
gnomAD v3:
17-41612259-C-T
gnomAD v4:
17-41612259-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41612259C>T , CM000679.2:g.41612259C>T | GRCh38 |
| NC_000017.10:g.39768511C>T , CM000679.1:g.39768511C>T | GRCh37 |
| NC_000017.9:g.37022037C>T | NCBI36 |
| NG_008301.1:g.5569G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301653.9:c.430G>A MANE Select | ENSP00000301653.3:p.Asp144Asn | |
| ENST00000301653.8:c.430G>A | ENSP00000301653.3:p.Asp144Asn | |
| ENST00000588319.1:n.507G>A | ||
| ENST00000593067.1:c.-285G>A | ENSP00000467124.1:n.-285G>A | |
| NM_005557.3:c.430G>A | NP_005548.2:p.Asp144Asn | |
| NM_005557.4:c.430G>A MANE Select | NP_005548.2:p.Asp144Asn |