Linked Data
ClinVar Variation Id:
202004
dbSNP Id:
rs794729115
gnomAD v2:
12-32955423-A-C
gnomAD v4:
12-32802489-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32802489A>C , CM000674.2:g.32802489A>C | GRCh38 |
| NC_000012.11:g.32955423A>C , CM000674.1:g.32955423A>C | GRCh37 |
| NC_000012.10:g.32846690A>C | NCBI36 |
| NG_009000.1:g.99358T>G , LRG_398:g.99358T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700555.2:n.584T>G | ||
| ENST00000700557.2:n.173T>G | ||
| ENST00000700559.2:c.2081T>G | ENSP00000515065.2:p.Leu694Arg | |
| ENST00000546498.2:n.768T>G | ||
| ENST00000549461.2:n.620T>G | ||
| ENST00000700555.1:c.512T>G | ENSP00000515062.1:p.Leu171Arg | |
| ENST00000700556.1:c.552T>G | ||
| ENST00000700557.1:c.92T>G | ENSP00000515064.1:p.Leu31Arg | |
| ENST00000700558.1:n.295T>G | ||
| ENST00000700559.1:c.1296T>G | ||
| ENST00000700560.1:n.1296T>G | ||
| ENST00000700561.1:n.1422T>G | ||
| ENST00000070846.11:c.2213T>G | ENSP00000070846.6:p.Leu738Arg | |
| ENST00000340811.9:c.2081T>G MANE Select | ENSP00000342800.5:p.Leu694Arg | |
| ENST00000070846.10:c.2213T>G | ENSP00000070846.6:p.Leu738Arg | |
| ENST00000340811.8:c.2081T>G | ENSP00000342800.4:p.Leu694Arg | |
| ENST00000549461.1:n.527T>G | ||
| ENST00000613243.1:c.2213T>G | ENSP00000478295.1:p.Leu738Arg | |
| NM_001005242.2:c.2081T>G | NP_001005242.2:p.Leu694Arg | |
| NM_004572.3:c.2213T>G , LRG_398t1:c.2213T>G | NP_004563.2:p.Leu738Arg | |
| NM_001005242.3:c.2081T>G MANE Select | NP_001005242.2:p.Leu694Arg | |
| NM_004572.4:c.2213T>G | NP_004563.2:p.Leu738Arg |