Linked Data
ClinVar Variation Id:
1274097
ClinVar RCV Id:
RCV001685085
dbSNP Id:
rs13167280
ExAC:
5:1280477 G / A
gnomAD v2:
5-1280477-G-A
gnomAD v3:
5-1280362-G-A
gnomAD v4:
5-1280362-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1280362G>A , CM000667.2:g.1280362G>A | GRCh38 |
| NC_000005.9:g.1280477G>A , CM000667.1:g.1280477G>A | GRCh37 |
| NC_000005.8:g.1333477G>A | NCBI36 |
| NG_009265.1:g.19686C>T , LRG_343:g.19686C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000310581.10:c.1770-24C>T MANE Select | ENSP00000309572.5:n.1770-24C>T | |
| ENST00000656021.1:c.*1316-24C>T | ENSP00000499759.1:n.*1316-24C>T | |
| ENST00000310581.9:c.1770-24C>T | ENSP00000309572.5:n.1770-24C>T | |
| ENST00000334602.10:c.1770-24C>T | ENSP00000334346.6:n.1770-24C>T | |
| ENST00000460137.6:c.1770-24C>T | ENSP00000425003.1:n.1770-24C>T | |
| ENST00000484238.6:n.583-24C>T | ||
| ENST00000508104.2:c.1770-24C>T | ENSP00000426042.2:n.1770-24C>T | |
| NM_001193376.1:c.1770-24C>T | NP_001180305.1:n.1770-24C>T | |
| NM_198253.2:c.1770-24C>T , LRG_343t1:c.1770-24C>T | NP_937983.2:n.1770-24C>T | |
| XM_011514104.1:c.240-24C>T | XP_011512406.1:n.240-24C>T | |
| XM_011514105.1:c.126-24C>T | XP_011512407.1:n.126-24C>T | |
| XM_011514106.1:c.126-24C>T | XP_011512408.1:n.126-24C>T | |
| NR_149162.1:n.1828-24C>T | ||
| NR_149163.1:n.1828-24C>T | ||
| NM_001193376.2:c.1770-24C>T | NP_001180305.1:n.1770-24C>T | |
| NM_198253.3:c.1770-24C>T MANE Select | NP_937983.2:n.1770-24C>T | |
| NR_149162.2:n.1849-24C>T | ||
| NR_149163.2:n.1849-24C>T | ||
| NM_001193376.3:c.1770-24C>T | NP_001180305.1:n.1770-24C>T | |
| NR_149162.3:n.1849-24C>T | ||
| NR_149163.3:n.1849-24C>T |