Linked Data
dbSNP Id:
rs762772172
ExAC:
17:39768769 A / C
gnomAD v2:
17-39768769-A-C
gnomAD v4:
17-41612517-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41612517A>C , CM000679.2:g.41612517A>C | GRCh38 |
| NC_000017.10:g.39768769A>C , CM000679.1:g.39768769A>C | GRCh37 |
| NC_000017.9:g.37022295A>C | NCBI36 |
| NG_008301.1:g.5311T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301653.9:c.172T>G MANE Select | ENSP00000301653.3:p.Ser58Ala | |
| ENST00000301653.8:c.172T>G | ENSP00000301653.3:p.Ser58Ala | |
| ENST00000588319.1:n.249T>G | ||
| ENST00000593067.1:c.-312-231T>G | ENSP00000467124.1:n.-312-231T>G | |
| NM_005557.3:c.172T>G | NP_005548.2:p.Ser58Ala | |
| NM_005557.4:c.172T>G MANE Select | NP_005548.2:p.Ser58Ala |