Linked Data
ClinVar Variation Id:
6524
ClinVar RCV Id:
RCV000006897
dbSNP Id:
rs774710082
ExAC:
17:46022924 G / A
gnomAD v2:
17-46022924-G-A
gnomAD v4:
17-47945558-G-A
COSMIC:
COSM1665972
PubMed:
PMID:15772097
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47945558G>A , CM000679.2:g.47945558G>A | GRCh38 |
| NC_000017.10:g.46022924G>A , CM000679.1:g.46022924G>A | GRCh37 |
| NC_000017.9:g.43377923G>A | NCBI36 |
| NG_008744.1:g.9036G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225573.5:c.364-1G>A | ENSP00000225573.5:n.364-1G>A | |
| ENST00000434554.7:c.364-303G>A | ENSP00000399960.3:n.364-303G>A | |
| ENST00000582171.6:c.*29-1G>A | ENSP00000463994.1:n.*29-1G>A | |
| ENST00000583245.6:n.332-1G>A | ||
| ENST00000583599.6:c.124-1G>A | ENSP00000463919.2:n.124-1G>A | |
| ENST00000584061.6:c.334-40G>A | ENSP00000463972.2:n.334-40G>A | |
| ENST00000584806.2:n.161G>A | ||
| ENST00000641285.1:n.144-1G>A | ||
| ENST00000641305.1:n.1281G>A | ||
| ENST00000641323.1:c.*383-1G>A | ENSP00000492965.1:n.*383-1G>A | |
| ENST00000641427.1:n.364-1G>A | ||
| ENST00000641511.1:c.279-765G>A | ||
| ENST00000641703.1:c.134-303G>A | ENSP00000493219.1:n.134-303G>A | |
| ENST00000641709.1:c.*186-1G>A | ENSP00000493349.1:n.*186-1G>A | |
| ENST00000641856.1:c.*871G>A | ENSP00000493224.1:n.*871G>A | |
| ENST00000642017.2:c.364-1G>A MANE Select | ENSP00000493302.2:n.364-1G>A | |
| ENST00000225573.4:c.364-1G>A | ENSP00000225573.4:n.364-1G>A | |
| ENST00000434554.6:c.364-1G>A | ENSP00000399960.2:n.364-1G>A | |
| ENST00000582171.5:c.*29-1G>A | ENSP00000463994.1:n.*29-1G>A | |
| ENST00000583245.5:c.*383-1G>A | ENSP00000463520.1:n.*383-1G>A | |
| ENST00000583599.5:c.124-1G>A | ENSP00000463919.1:n.124-1G>A | |
| ENST00000584061.5:c.*186-1G>A | ENSP00000463972.1:n.*186-1G>A | |
| ENST00000584806.1:n.161G>A | ||
| ENST00000585320.5:c.*29-765G>A | ENSP00000462345.1:n.*29-765G>A | |
| NM_018129.3:c.364-1G>A | NP_060599.1:n.364-1G>A | |
| XM_005257500.2:c.124-1G>A | XP_005257557.1:n.124-1G>A | |
| XM_011524968.1:c.79-1G>A | XP_011523270.1:n.79-1G>A | |
| XM_005257500.3:c.124-1G>A | XP_005257557.1:n.124-1G>A | |
| XM_011524968.2:c.79-1G>A | XP_011523270.1:n.79-1G>A | |
| XM_017024813.1:c.124-1G>A | XP_016880302.1:n.124-1G>A | |
| NM_018129.4:c.364-1G>A MANE Select | NP_060599.1:n.364-1G>A |