Linked Data
ClinVar Variation Id:
2056880
ClinVar RCV Id:
RCV002923067
dbSNP Id:
rs140537366
ExAC:
17:39768642 G / C
gnomAD v2:
17-39768642-G-C
gnomAD v3:
17-41612390-G-C
gnomAD v4:
17-41612390-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41612390G>C , CM000679.2:g.41612390G>C | GRCh38 |
| NC_000017.10:g.39768642G>C , CM000679.1:g.39768642G>C | GRCh37 |
| NC_000017.9:g.37022168G>C | NCBI36 |
| NG_008301.1:g.5438C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301653.9:c.299C>G MANE Select | ENSP00000301653.3:p.Ala100Gly | |
| ENST00000301653.8:c.299C>G | ENSP00000301653.3:p.Ala100Gly | |
| ENST00000588319.1:n.376C>G | ||
| ENST00000593067.1:c.-312-104C>G | ENSP00000467124.1:n.-312-104C>G | |
| NM_005557.3:c.299C>G | NP_005548.2:p.Ala100Gly | |
| NM_005557.4:c.299C>G MANE Select | NP_005548.2:p.Ala100Gly |