Linked Data
ClinVar Variation Id:
1666619
ClinVar RCV Id:
RCV003597410
dbSNP Id:
rs1770037473
gnomAD v3:
6-32843106-G-C
gnomAD v4:
6-32843106-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32843106G>C , CM000668.2:g.32843106G>C | GRCh38 |
| NC_000006.11:g.32810883G>C , CM000668.1:g.32810883G>C | GRCh37 |
| NC_000006.10:g.32918861G>C | NCBI36 |
| NG_009793.3:g.665C>G | |
| NG_028165.1:g.6830C>G | |
| NG_009793.4:g.665C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650793.2:n.169-17C>G | ||
| ENST00000697612.1:n.830C>G | ||
| ENST00000374881.3:c.136-17C>G | ENSP00000364015.2:n.136-17C>G | |
| ENST00000374882.8:c.148-17C>G MANE Select | ENSP00000364016.4:n.148-17C>G | |
| ENST00000650411.1:n.1452C>G | ||
| ENST00000650793.1:n.169-17C>G | ||
| ENST00000374881.2:c.136-17C>G | ENSP00000364015.2:n.136-17C>G | |
| ENST00000374882.7:c.148-17C>G | ENSP00000364016.3:n.148-17C>G | |
| ENST00000395339.7:c.148-17C>G | ENSP00000378748.3:n.148-17C>G | |
| ENST00000484003.1:n.374-17C>G | ||
| NM_004159.4:c.136-17C>G | NP_004150.1:n.136-17C>G | |
| NM_148919.3:c.148-17C>G | NP_683720.2:n.148-17C>G | |
| NM_148919.4:c.148-17C>G MANE Select | NP_683720.2:n.148-17C>G | |
| NM_004159.5:c.136-17C>G | NP_004150.1:n.136-17C>G |