Linked Data
dbSNP Id:
rs146355996
gnomAD v2:
12-68643605-G-C
gnomAD v3:
12-68249825-G-C
gnomAD v4:
12-68249825-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.68249825G>C , CM000674.2:g.68249825G>C | GRCh38 |
| NC_000012.11:g.68643605G>C , CM000674.1:g.68643605G>C | GRCh37 |
| NC_000012.10:g.66929872G>C | NCBI36 |
| NG_060763.1:g.8780C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328087.6:c.463-949C>G | ENSP00000329384.4:n.463-949C>G | |
| ENST00000538666.6:c.463-949C>G MANE Select | ENSP00000442424.1:n.463-949C>G | |
| ENST00000328087.5:c.463-949C>G | ENSP00000329384.4:n.463-949C>G | |
| ENST00000538666.5:c.463-949C>G | ENSP00000442424.1:n.463-949C>G | |
| NM_020525.4:c.463-949C>G | NP_065386.1:n.463-949C>G | |
| XR_945055.1:n.265-14833G>C | ||
| NM_020525.5:c.463-949C>G MANE Select | NP_065386.1:n.463-949C>G | |
| XR_002957418.1:n.281-14833G>C |