Linked Data
gnomAD v4:
12-14977872-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.14977872T>G , CM000674.2:g.14977872T>G | GRCh38 |
| NC_000012.11:g.15130806T>G , CM000674.1:g.15130806T>G | GRCh37 |
| NC_000012.10:g.15022073T>G | NCBI36 |
| NG_016859.1:g.9851T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266395.3:c.-41-100T>G MANE Select | ENSP00000266395.2:n.-41-100T>G | |
| ENST00000266395.2:c.-41-100T>G | ENSP00000266395.2:n.-41-100T>G | |
| NM_006205.2:c.-41-100T>G | NP_006196.1:n.-41-100T>G | |
| XR_931376.1:n.175+11615A>C | ||
| XM_017019431.2:c.-141T>G | XP_016874920.1:n.-141T>G | |
| XR_931376.2:n.389+11615A>C | ||
| NM_006205.3:c.-41-100T>G MANE Select | NP_006196.1:n.-41-100T>G |