Linked Data
ClinVar Variation Id:
1160458
ClinVar RCV Id:
RCV002564169
dbSNP Id:
rs770214413
gnomAD v3:
5-1279475-C-A
gnomAD v4:
5-1279475-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1279475C>A , CM000667.2:g.1279475C>A | GRCh38 |
| NC_000005.9:g.1279590C>A , CM000667.1:g.1279590C>A | GRCh37 |
| NC_000005.8:g.1332590C>A | NCBI36 |
| NG_009265.1:g.20573G>T , LRG_343:g.20573G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310581.10:c.1951-5G>T MANE Select | ENSP00000309572.5:n.1951-5G>T | |
| ENST00000656021.1:c.*1497-5G>T | ENSP00000499759.1:n.*1497-5G>T | |
| ENST00000310581.9:c.1951-5G>T | ENSP00000309572.5:n.1951-5G>T | |
| ENST00000334602.10:c.1951-5G>T | ENSP00000334346.6:n.1951-5G>T | |
| ENST00000460137.6:c.1951-5G>T | ENSP00000425003.1:n.1951-5G>T | |
| ENST00000484238.6:n.764-5G>T | ||
| ENST00000508104.2:c.1951-5G>T | ENSP00000426042.2:n.1951-5G>T | |
| NM_001193376.1:c.1951-5G>T | NP_001180305.1:n.1951-5G>T | |
| NM_198253.2:c.1951-5G>T , LRG_343t1:c.1951-5G>T | NP_937983.2:n.1951-5G>T | |
| XM_011514104.1:c.421-5G>T | XP_011512406.1:n.421-5G>T | |
| XM_011514105.1:c.307-5G>T | XP_011512407.1:n.307-5G>T | |
| XM_011514106.1:c.307-5G>T | XP_011512408.1:n.307-5G>T | |
| NR_149162.1:n.2009-5G>T | ||
| NR_149163.1:n.2009-5G>T | ||
| NM_001193376.2:c.1951-5G>T | NP_001180305.1:n.1951-5G>T | |
| NM_198253.3:c.1951-5G>T MANE Select | NP_937983.2:n.1951-5G>T | |
| NR_149162.2:n.2030-5G>T | ||
| NR_149163.2:n.2030-5G>T | ||
| NM_001193376.3:c.1951-5G>T | NP_001180305.1:n.1951-5G>T | |
| NR_149162.3:n.2030-5G>T | ||
| NR_149163.3:n.2030-5G>T |