Linked Data
dbSNP Id:
rs10860936
gnomAD v2:
12-103282952-T-C
gnomAD v3:
12-102889174-T-C
gnomAD v4:
12-102889174-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102889174T>C , CM000674.2:g.102889174T>C | GRCh38 |
| NC_000012.11:g.103282952T>C , CM000674.1:g.103282952T>C | GRCh37 |
| NC_000012.10:g.101807082T>C | NCBI36 |
| NG_008690.1:g.33429A>G | |
| NG_008690.2:g.74237A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.352+5561A>G MANE Select | ENSP00000448059.1:n.352+5561A>G | |
| ENST00000307000.7:c.337+5561A>G | ENSP00000303500.2:n.337+5561A>G | |
| ENST00000548928.1:n.275-2932A>G | ||
| ENST00000549111.5:n.448+5561A>G | ||
| ENST00000550978.6:c.336+5561A>G | ||
| ENST00000551337.5:c.352+5561A>G | ENSP00000447620.1:n.352+5561A>G | |
| ENST00000551988.5:n.441+5561A>G | ||
| ENST00000553106.5:c.352+5561A>G | ENSP00000448059.1:n.352+5561A>G | |
| NM_000277.1:c.352+5561A>G | NP_000268.1:n.352+5561A>G | |
| XM_011538422.1:c.352+5561A>G | XP_011536724.1:n.352+5561A>G | |
| NM_000277.2:c.352+5561A>G | NP_000268.1:n.352+5561A>G | |
| NM_001354304.1:c.352+5561A>G | NP_001341233.1:n.352+5561A>G | |
| XM_017019370.2:c.352+5561A>G | XP_016874859.1:n.352+5561A>G | |
| NM_000277.3:c.352+5561A>G MANE Select | NP_000268.1:n.352+5561A>G | |
| NM_001354304.2:c.352+5561A>G | NP_001341233.1:n.352+5561A>G |