Linked Data
ClinVar Variation Id:
208390
ClinVar RCV Id:
RCV000202325
dbSNP Id:
rs863223351
gnomAD v4:
17-39218007-C-T
PubMed:
PMID:26508570
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39218007C>T , CM000679.2:g.39218007C>T | GRCh38 |
| NC_000017.10:g.37374260C>T , CM000679.1:g.37374260C>T | GRCh37 |
| NC_000017.9:g.34627786C>T | NCBI36 |
| NG_054936.1:g.12781G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333461.6:c.257G>A MANE Select | ENSP00000327509.5:p.Arg86Lys | |
| ENST00000333461.5:c.257G>A | ENSP00000327509.5:p.Arg86Lys | |
| ENST00000584501.1:c.195+62G>A | ENSP00000463299.1:n.195+62G>A | |
| NM_198993.3:c.257G>A | NP_945344.1:p.Arg86Lys | |
| NM_001351360.1:c.-30+62G>A | NP_001338289.1:n.-30+62G>A | |
| NM_198993.4:c.257G>A | NP_945344.1:p.Arg86Lys | |
| XM_017024580.1:c.257G>A | XP_016880069.1:p.Arg86Lys | |
| XM_017024581.1:c.257G>A | XP_016880070.1:p.Arg86Lys | |
| XM_017024583.1:c.257G>A | XP_016880072.1:p.Arg86Lys | |
| XR_002957997.1:n.542G>A | ||
| NM_198993.5:c.257G>A MANE Select | NP_945344.1:p.Arg86Lys | |
| NM_001351360.2:c.-30+62G>A | NP_001338289.1:n.-30+62G>A |