Linked Data
dbSNP Id:
rs749365596
ExAC:
12:103310930 T / C
gnomAD v2:
12-103310930-T-C
gnomAD v4:
12-102917152-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102917152T>C , CM000674.2:g.102917152T>C | GRCh38 |
| NC_000012.11:g.103310930T>C , CM000674.1:g.103310930T>C | GRCh37 |
| NC_000012.10:g.101835060T>C | NCBI36 |
| NG_008690.1:g.5451A>G | |
| NG_008690.2:g.46259A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.-22A>G MANE Select | ENSP00000448059.1:n.-22A>G | |
| ENST00000307000.7:c.-169A>G | ENSP00000303500.2:n.-169A>G | |
| ENST00000546844.1:c.-22A>G | ENSP00000446658.1:n.-22A>G | |
| ENST00000547319.1:n.290A>G | ||
| ENST00000549111.5:n.75A>G | ||
| ENST00000551337.5:c.-22A>G | ENSP00000447620.1:n.-22A>G | |
| ENST00000551988.5:n.68A>G | ||
| ENST00000553106.5:c.-22A>G | ENSP00000448059.1:n.-22A>G | |
| ENST00000635500.1:n.29-4254A>G | ||
| NM_000277.1:c.-22A>G | NP_000268.1:n.-22A>G | |
| XM_011538422.1:c.-22A>G | XP_011536724.1:n.-22A>G | |
| NM_000277.2:c.-22A>G | NP_000268.1:n.-22A>G | |
| NM_001354304.1:c.-22A>G | NP_001341233.1:n.-22A>G | |
| XM_017019370.2:c.-22A>G | XP_016874859.1:n.-22A>G | |
| NM_000277.3:c.-22A>G MANE Select | NP_000268.1:n.-22A>G | |
| NM_001354304.2:c.-22A>G | NP_001341233.1:n.-22A>G |