Linked Data
ClinVar Variation Id:
533046
dbSNP Id:
rs747191995
ExAC:
12:32945385 G / A
gnomAD v2:
12-32945385-G-A
gnomAD v3:
12-32792451-G-A
gnomAD v4:
12-32792451-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32792451G>A , CM000674.2:g.32792451G>A | GRCh38 |
| NC_000012.11:g.32945385G>A , CM000674.1:g.32945385G>A | GRCh37 |
| NC_000012.10:g.32836652G>A | NCBI36 |
| NG_009000.1:g.109396C>T , LRG_398:g.109396C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700555.2:n.990C>T | ||
| ENST00000700557.2:n.579C>T | ||
| ENST00000700559.2:c.2297C>T | ENSP00000515065.2:p.Pro766Leu | |
| ENST00000546498.2:n.1174C>T | ||
| ENST00000549461.2:n.979C>T | ||
| ENST00000700555.1:c.918C>T | ENSP00000515062.1:p.Ala306= | |
| ENST00000700556.1:c.958C>T | ||
| ENST00000700557.1:c.498C>T | ENSP00000515064.1:p.Ala166= | |
| ENST00000700558.1:n.701C>T | ||
| ENST00000700559.1:c.1512C>T | ||
| ENST00000700560.1:n.1853C>T | ||
| ENST00000070846.11:c.2619C>T | ENSP00000070846.6:p.Ala873= | |
| ENST00000340811.9:c.2487C>T MANE Select | ENSP00000342800.5:p.Ala829= | |
| ENST00000070846.10:c.2619C>T | ENSP00000070846.6:p.Ala873= | |
| ENST00000340811.8:c.2487C>T | ENSP00000342800.4:p.Ala829= | |
| ENST00000546769.1:n.274C>T | ||
| ENST00000613243.1:c.2617C>T | ENSP00000478295.1:n.2617C>T | |
| NM_001005242.2:c.2487C>T | NP_001005242.2:p.Ala829= | |
| NM_004572.3:c.2619C>T , LRG_398t1:c.2619C>T | NP_004563.2:p.Ala873= | |
| NM_001005242.3:c.2487C>T MANE Select | NP_001005242.2:p.Ala829= | |
| NM_004572.4:c.2619C>T | NP_004563.2:p.Ala873= |