Linked Data
gnomAD v4:
12-14977882-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.14977882C>G , CM000674.2:g.14977882C>G | GRCh38 |
| NC_000012.11:g.15130816C>G , CM000674.1:g.15130816C>G | GRCh37 |
| NC_000012.10:g.15022083C>G | NCBI36 |
| NG_016859.1:g.9861C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266395.3:c.-41-90C>G MANE Select | ENSP00000266395.2:n.-41-90C>G | |
| ENST00000266395.2:c.-41-90C>G | ENSP00000266395.2:n.-41-90C>G | |
| NM_006205.2:c.-41-90C>G | NP_006196.1:n.-41-90C>G | |
| XR_931376.1:n.175+11605G>C | ||
| XM_017019431.2:c.-131C>G | XP_016874920.1:n.-131C>G | |
| XR_931376.2:n.389+11605G>C | ||
| NM_006205.3:c.-41-90C>G MANE Select | NP_006196.1:n.-41-90C>G |