Linked Data
gnomAD v4:
12-102917321-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102917321A>G , CM000674.2:g.102917321A>G | GRCh38 |
| NC_000012.11:g.103311099A>G , CM000674.1:g.103311099A>G | GRCh37 |
| NC_000012.10:g.101835229A>G | NCBI36 |
| NG_008690.1:g.5283T>C | |
| NG_008690.2:g.46090T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000546708.5:n.493-96T>C | ||
| ENST00000546844.1:c.-95-96T>C | ENSP00000446658.1:n.-95-96T>C | |
| ENST00000547319.1:n.217-96T>C | ||
| ENST00000551337.5:c.-95-96T>C | ENSP00000447620.1:n.-95-96T>C | |
| ENST00000553106.5:c.-191T>C | ENSP00000448059.1:n.-191T>C | |
| ENST00000635500.1:n.29-4423T>C | ||
| NM_000277.1:c.-190T>C | NP_000268.1:n.-190T>C | |
| NM_000277.2:c.-191T>C | NP_000268.1:n.-191T>C | |
| NM_001354304.1:c.-95-96T>C | NP_001341233.1:n.-95-96T>C | |
| NM_001354304.2:c.-95-96T>C | NP_001341233.1:n.-95-96T>C |