Linked Data
dbSNP Id:
rs115236441
gnomAD v2:
12-103245215-G-A
gnomAD v3:
12-102851437-G-A
gnomAD v4:
12-102851437-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102851437G>A , CM000674.2:g.102851437G>A | GRCh38 |
| NC_000012.11:g.103245215G>A , CM000674.1:g.103245215G>A | GRCh37 |
| NC_000012.10:g.101769345G>A | NCBI36 |
| NG_008690.1:g.71166C>T | |
| NG_008690.2:g.111974C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.912+250C>T MANE Select | ENSP00000448059.1:n.912+250C>T | |
| ENST00000307000.7:c.897+250C>T | ENSP00000303500.2:n.897+250C>T | |
| ENST00000549247.6:n.671+250C>T | ||
| ENST00000551114.2:n.574+250C>T | ||
| ENST00000553106.5:c.912+250C>T | ENSP00000448059.1:n.912+250C>T | |
| ENST00000635477.1:c.73+250C>T | ||
| NM_000277.1:c.912+250C>T | NP_000268.1:n.912+250C>T | |
| XM_011538422.1:c.912+250C>T | XP_011536724.1:n.912+250C>T | |
| NM_000277.2:c.912+250C>T | NP_000268.1:n.912+250C>T | |
| NM_001354304.1:c.912+250C>T | NP_001341233.1:n.912+250C>T | |
| NM_000277.3:c.912+250C>T MANE Select | NP_000268.1:n.912+250C>T | |
| NM_001354304.2:c.912+250C>T | NP_001341233.1:n.912+250C>T |