Linked Data
ClinVar Variation Id:
1077346
ClinVar RCV Id:
RCV001391919
dbSNP Id:
rs1303194537
gnomAD v2:
6-57058740-A-C
gnomAD v4:
6-57193942-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.57193942A>C , CM000668.2:g.57193942A>C | GRCh38 |
| NC_000006.11:g.57058740A>C , CM000668.1:g.57058740A>C | GRCh37 |
| NC_000006.10:g.57166699A>C | NCBI36 |
| NG_012170.1:g.33339T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000468148.6:c.482-8T>G MANE Select | ENSP00000417610.1:n.482-8T>G | |
| ENST00000317483.4:c.482-8T>G | ENSP00000320413.3:n.482-8T>G | |
| ENST00000468148.5:c.482-8T>G | ENSP00000417610.1:n.482-8T>G | |
| NM_001278666.1:c.482-8T>G | NP_001265595.1:n.482-8T>G | |
| NM_001278667.1:c.482-8T>G | NP_001265596.1:n.482-8T>G | |
| NM_001278668.1:c.482-8T>G | NP_001265597.1:n.482-8T>G | |
| NM_016277.4:c.482-8T>G | NP_057361.3:n.482-8T>G | |
| NM_183227.2:c.482-8T>G | NP_899050.1:n.482-8T>G | |
| NR_103822.1:n.341-8T>G | ||
| XM_005249179.2:c.399-8T>G | XP_005249236.1:n.399-8T>G | |
| NM_016277.5:c.482-8T>G MANE Select | NP_057361.3:n.482-8T>G | |
| NM_001278666.2:c.482-8T>G | NP_001265595.1:n.482-8T>G | |
| NM_001278667.2:c.482-8T>G | NP_001265596.1:n.482-8T>G | |
| NM_001278668.2:c.482-8T>G | NP_001265597.1:n.482-8T>G | |
| NM_183227.3:c.482-8T>G | NP_899050.1:n.482-8T>G | |
| NR_103822.2:n.334-8T>G |