Linked Data
ClinVar Variation Id:
242234
dbSNP Id:
rs878855303
gnomAD v2:
5-1258784-C-A
gnomAD v3:
5-1258669-C-A
gnomAD v4:
5-1258669-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1258669C>A , CM000667.2:g.1258669C>A | GRCh38 |
| NC_000005.9:g.1258784C>A , CM000667.1:g.1258784C>A | GRCh37 |
| NC_000005.8:g.1311784C>A | NCBI36 |
| NG_009265.1:g.41379G>T , LRG_343:g.41379G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310581.10:c.2971-10G>T MANE Select | ENSP00000309572.5:n.2971-10G>T | |
| ENST00000656021.1:c.*2517-10G>T | ENSP00000499759.1:n.*2517-10G>T | |
| ENST00000667927.1:n.259-10G>T | ||
| ENST00000310581.9:c.2971-10G>T | ENSP00000309572.5:n.2971-10G>T | |
| ENST00000334602.10:c.2782-10G>T | ENSP00000334346.6:n.2782-10G>T | |
| ENST00000460137.6:c.2564-10G>T | ENSP00000425003.1:n.2564-10G>T | |
| ENST00000484238.6:n.1413-10G>T | ||
| NM_001193376.1:c.2782-10G>T | NP_001180305.1:n.2782-10G>T | |
| NM_198253.2:c.2971-10G>T , LRG_343t1:c.2971-10G>T | NP_937983.2:n.2971-10G>T | |
| XM_011514104.1:c.1441-10G>T | XP_011512406.1:n.1441-10G>T | |
| XM_011514105.1:c.1327-10G>T | XP_011512407.1:n.1327-10G>T | |
| XM_011514106.1:c.1327-10G>T | XP_011512408.1:n.1327-10G>T | |
| NR_149162.1:n.2658-10G>T | ||
| NR_149163.1:n.2622-10G>T | ||
| NM_001193376.2:c.2782-10G>T | NP_001180305.1:n.2782-10G>T | |
| NM_198253.3:c.2971-10G>T MANE Select | NP_937983.2:n.2971-10G>T | |
| NR_149162.2:n.2679-10G>T | ||
| NR_149163.2:n.2643-10G>T | ||
| NM_001193376.3:c.2782-10G>T | NP_001180305.1:n.2782-10G>T | |
| NR_149162.3:n.2679-10G>T | ||
| NR_149163.3:n.2643-10G>T |