Linked Data
ClinVar Variation Id:
518740
dbSNP Id:
rs1431341096
gnomAD v2:
12-32949152-A-C
gnomAD v4:
12-32796218-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32796218A>C , CM000674.2:g.32796218A>C | GRCh38 |
| NC_000012.11:g.32949152A>C , CM000674.1:g.32949152A>C | GRCh37 |
| NC_000012.10:g.32840419A>C | NCBI36 |
| NG_009000.1:g.105629T>G , LRG_398:g.105629T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700555.2:n.751T>G | ||
| ENST00000700557.2:n.340T>G | ||
| ENST00000700559.2:c.2168-3487T>G | ENSP00000515065.2:n.2168-3487T>G | |
| ENST00000546498.2:n.935T>G | ||
| ENST00000549461.2:n.740T>G | ||
| ENST00000700555.1:c.679T>G | ENSP00000515062.1:p.Ser227Ala | |
| ENST00000700556.1:c.719T>G | ||
| ENST00000700557.1:c.259T>G | ENSP00000515064.1:p.Ser87Ala | |
| ENST00000700558.1:n.462T>G | ||
| ENST00000700559.1:c.1383-3487T>G | ||
| ENST00000700560.1:n.1463T>G | ||
| ENST00000700561.1:n.1589T>G | ||
| ENST00000070846.11:c.2380T>G | ENSP00000070846.6:p.Ser794Ala | |
| ENST00000340811.9:c.2248T>G MANE Select | ENSP00000342800.5:p.Ser750Ala | |
| ENST00000070846.10:c.2380T>G | ENSP00000070846.6:p.Ser794Ala | |
| ENST00000340811.8:c.2248T>G | ENSP00000342800.4:p.Ser750Ala | |
| ENST00000613243.1:c.2380T>G | ENSP00000478295.1:p.Ser794Ala | |
| NM_001005242.2:c.2248T>G | NP_001005242.2:p.Ser750Ala | |
| NM_004572.3:c.2380T>G , LRG_398t1:c.2380T>G | NP_004563.2:p.Ser794Ala | |
| NM_001005242.3:c.2248T>G MANE Select | NP_001005242.2:p.Ser750Ala | |
| NM_004572.4:c.2380T>G | NP_004563.2:p.Ser794Ala |