Linked Data
dbSNP Id:
rs1465547522
gnomAD v2:
12-32955287-T-C
gnomAD v3:
12-32802353-T-C
gnomAD v4:
12-32802353-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32802353T>C , CM000674.2:g.32802353T>C | GRCh38 |
| NC_000012.11:g.32955287T>C , CM000674.1:g.32955287T>C | GRCh37 |
| NC_000012.10:g.32846554T>C | NCBI36 |
| NG_009000.1:g.99494A>G , LRG_398:g.99494A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700555.2:n.670+50A>G | ||
| ENST00000700557.2:n.259+50A>G | ||
| ENST00000700559.2:c.2167+50A>G | ENSP00000515065.2:n.2167+50A>G | |
| ENST00000546498.2:n.854+50A>G | ||
| ENST00000549461.2:n.659+97A>G | ||
| ENST00000700555.1:c.598+50A>G | ENSP00000515062.1:n.598+50A>G | |
| ENST00000700556.1:c.638+50A>G | ||
| ENST00000700557.1:c.178+50A>G | ENSP00000515064.1:n.178+50A>G | |
| ENST00000700558.1:n.381+50A>G | ||
| ENST00000700559.1:c.1382+50A>G | ||
| ENST00000700560.1:n.1382+50A>G | ||
| ENST00000700561.1:n.1508+50A>G | ||
| ENST00000070846.11:c.2299+50A>G | ENSP00000070846.6:n.2299+50A>G | |
| ENST00000340811.9:c.2167+50A>G MANE Select | ENSP00000342800.5:n.2167+50A>G | |
| ENST00000070846.10:c.2299+50A>G | ENSP00000070846.6:n.2299+50A>G | |
| ENST00000340811.8:c.2167+50A>G | ENSP00000342800.4:n.2167+50A>G | |
| ENST00000613243.1:c.2299+50A>G | ENSP00000478295.1:n.2299+50A>G | |
| NM_001005242.2:c.2167+50A>G | NP_001005242.2:n.2167+50A>G | |
| NM_004572.3:c.2299+50A>G , LRG_398t1:c.2299+50A>G | NP_004563.2:n.2299+50A>G | |
| NM_001005242.3:c.2167+50A>G MANE Select | NP_001005242.2:n.2167+50A>G | |
| NM_004572.4:c.2299+50A>G | NP_004563.2:n.2299+50A>G |