Linked Data
ClinVar Variation Id:
370200
dbSNP Id:
rs750293380
ExAC:
15:91290721 G / T
gnomAD v2:
15-91290721-G-T
gnomAD v4:
15-90747491-G-T
PubMed:
PMID:17407155
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90747491G>T , CM000677.2:g.90747491G>T | GRCh38 |
| NC_000015.9:g.91290721G>T , CM000677.1:g.91290721G>T | GRCh37 |
| NC_000015.8:g.89091725G>T | NCBI36 |
| NG_007272.1:g.35120G>T , LRG_20:g.35120G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355112.8:c.98+1G>T MANE Select | ENSP00000347232.3:n.98+1G>T | |
| ENST00000648453.1:c.98+1G>T | ENSP00000497646.1:n.98+1G>T | |
| ENST00000680772.1:c.98+1G>T | ENSP00000506117.1:n.98+1G>T | |
| ENST00000681142.1:c.98+1G>T | ENSP00000506682.1:n.98+1G>T | |
| ENST00000355112.7:c.98+1G>T | ENSP00000347232.3:n.98+1G>T | |
| ENST00000559282.1:n.102G>T | ||
| ENST00000559724.5:c.98+1G>T | ENSP00000453359.1:n.98+1G>T | |
| ENST00000560509.5:c.98+1G>T | ENSP00000454158.1:n.98+1G>T | |
| NM_000057.3:c.98+1G>T | NP_000048.1:n.98+1G>T | |
| NM_001287246.1:c.98+1G>T | NP_001274175.1:n.98+1G>T | |
| NM_001287247.1:c.98+1G>T | NP_001274176.1:n.98+1G>T | |
| NM_001287248.1:c.-1194+1G>T | NP_001274177.1:n.-1194+1G>T | |
| XM_011521882.1:c.98+1G>T | XP_011520184.1:n.98+1G>T | |
| XM_011521882.3:c.98+1G>T | XP_011520184.1:n.98+1G>T | |
| NM_000057.4:c.98+1G>T MANE Select | NP_000048.1:n.98+1G>T | |
| NM_001287246.2:c.98+1G>T | NP_001274175.1:n.98+1G>T | |
| NM_001287247.2:c.98+1G>T | NP_001274176.1:n.98+1G>T | |
| NM_001287248.2:c.-1194+1G>T | NP_001274177.1:n.-1194+1G>T |