Linked Data
gnomAD v4:
12-14977878-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.14977878A>C , CM000674.2:g.14977878A>C | GRCh38 |
| NC_000012.11:g.15130812A>C , CM000674.1:g.15130812A>C | GRCh37 |
| NC_000012.10:g.15022079A>C | NCBI36 |
| NG_016859.1:g.9857A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266395.3:c.-41-94A>C MANE Select | ENSP00000266395.2:n.-41-94A>C | |
| ENST00000266395.2:c.-41-94A>C | ENSP00000266395.2:n.-41-94A>C | |
| NM_006205.2:c.-41-94A>C | NP_006196.1:n.-41-94A>C | |
| XR_931376.1:n.175+11609T>G | ||
| XM_017019431.2:c.-135A>C | XP_016874920.1:n.-135A>C | |
| XR_931376.2:n.389+11609T>G | ||
| NM_006205.3:c.-41-94A>C MANE Select | NP_006196.1:n.-41-94A>C |