Linked Data
ClinVar Variation Id:
3091571
ClinVar RCV Id:
RCV004378430
dbSNP Id:
rs779073989
ExAC:
17:72888780 A / G
gnomAD v2:
17-72888780-A-G
gnomAD v3:
17-74892653-A-G
gnomAD v4:
17-74892653-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74892653A>G , CM000679.2:g.74892653A>G | GRCh38 |
| NC_000017.10:g.72888780A>G , CM000679.1:g.72888780A>G | GRCh37 |
| NC_000017.9:g.70400375A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000612771.5:c.281T>C MANE Select | ENSP00000481684.1:p.Phe94Ser | |
| ENST00000612771.4:c.281T>C | ENSP00000481684.1:p.Phe94Ser | |
| ENST00000614223.4:c.227T>C | ENSP00000478413.1:p.Phe76Ser | |
| ENST00000621859.1:c.244+699T>C | ENSP00000480385.1:n.244+699T>C | |
| NM_178128.5:c.281T>C | NP_835229.3:p.Phe94Ser | |
| XM_005257224.3:c.281T>C | XP_005257281.2:p.Phe94Ser | |
| XM_005257224.5:c.281T>C | XP_005257281.2:p.Phe94Ser | |
| XM_017024458.2:c.227T>C | XP_016879947.1:p.Phe76Ser | |
| NM_178128.6:c.281T>C MANE Select | NP_835229.3:p.Phe94Ser |