Linked Data
dbSNP Id:
rs576298541
gnomAD v2:
12-103248134-C-A
gnomAD v3:
12-102854356-C-A
gnomAD v4:
12-102854356-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102854356C>A , CM000674.2:g.102854356C>A | GRCh38 |
| NC_000012.11:g.103248134C>A , CM000674.1:g.103248134C>A | GRCh37 |
| NC_000012.10:g.101772264C>A | NCBI36 |
| NG_008690.1:g.68247G>T | |
| NG_008690.2:g.109055G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.706+780G>T MANE Select | ENSP00000448059.1:n.706+780G>T | |
| ENST00000307000.7:c.691+780G>T | ENSP00000303500.2:n.691+780G>T | |
| ENST00000553106.5:c.706+780G>T | ENSP00000448059.1:n.706+780G>T | |
| NM_000277.1:c.706+780G>T | NP_000268.1:n.706+780G>T | |
| XM_011538422.1:c.706+780G>T | XP_011536724.1:n.706+780G>T | |
| NM_000277.2:c.706+780G>T | NP_000268.1:n.706+780G>T | |
| NM_001354304.1:c.706+780G>T | NP_001341233.1:n.706+780G>T | |
| XM_017019370.2:c.*429G>T | XP_016874859.1:n.*429G>T | |
| NM_000277.3:c.706+780G>T MANE Select | NP_000268.1:n.706+780G>T | |
| NM_001354304.2:c.706+780G>T | NP_001341233.1:n.706+780G>T |