Linked Data
ClinVar Variation Id:
11948
ClinVar RCV Id:
RCV003581562
dbSNP Id:
rs121965001
PubMed:
PMID:9621512
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.100230872G>C , CM000663.2:g.100230872G>C | GRCh38 |
| NC_000001.10:g.100696428G>C , CM000663.1:g.100696428G>C | GRCh37 |
| NC_000001.9:g.100469016G>C | NCBI36 |
| NG_011852.2:g.23982C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681617.1:c.294C>G | ENSP00000505544.1:p.Ile98Met | |
| ENST00000681780.1:c.-250C>G | ENSP00000505780.1:n.-250C>G | |
| ENST00000370131.3:c.294C>G | ENSP00000359150.3:p.Ile98Met | |
| ENST00000370132.8:c.294C>G MANE Select | ENSP00000359151.3:p.Ile98Met | |
| NM_001918.3:c.294C>G | NP_001909.3:p.Ile98Met | |
| XM_005270545.2:c.-250C>G | XP_005270602.1:n.-250C>G | |
| XM_005270546.2:c.-111+4564C>G | XP_005270603.1:n.-111+4564C>G | |
| XR_946560.1:n.314C>G | ||
| XM_005270545.4:c.-250C>G | XP_005270602.1:n.-250C>G | |
| XM_017000468.2:c.-250C>G | XP_016855957.1:n.-250C>G | |
| XM_017000469.2:c.-111+4564C>G | XP_016855958.1:n.-111+4564C>G | |
| XR_946560.3:n.311C>G | ||
| NM_001918.4:c.294C>G | NP_001909.3:p.Ile98Met | |
| NM_001918.5:c.294C>G MANE Select | NP_001909.4:p.Ile98Met | |
| NM_001399969.1:c.-250C>G | NP_001386898.1:n.-250C>G | |
| NM_001399972.1:c.-250C>G | NP_001386901.1:n.-250C>G | |
| NR_174363.1:n.265+4564C>G | ||
| NR_174364.1:n.308C>G | ||
| NR_174365.1:n.308C>G | ||
| NR_174366.1:n.308C>G |