Linked Data
ClinVar Variation Id:
1789317
dbSNP Id:
rs201487421
gnomAD v3:
12-32796295-T-C
gnomAD v4:
12-32796295-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32796295T>C , CM000674.2:g.32796295T>C | GRCh38 |
| NC_000012.11:g.32949229T>C , CM000674.1:g.32949229T>C | GRCh37 |
| NC_000012.10:g.32840496T>C | NCBI36 |
| NG_009000.1:g.105552A>G , LRG_398:g.105552A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700555.2:n.674A>G | ||
| ENST00000700557.2:n.263A>G | ||
| ENST00000700559.2:c.2168-3564A>G | ENSP00000515065.2:n.2168-3564A>G | |
| ENST00000546498.2:n.858A>G | ||
| ENST00000549461.2:n.663A>G | ||
| ENST00000700555.1:c.602A>G | ENSP00000515062.1:p.Lys201Arg | |
| ENST00000700556.1:c.642A>G | ||
| ENST00000700557.1:c.182A>G | ENSP00000515064.1:p.Lys61Arg | |
| ENST00000700558.1:n.385A>G | ||
| ENST00000700559.1:c.1383-3564A>G | ||
| ENST00000700560.1:n.1386A>G | ||
| ENST00000700561.1:n.1512A>G | ||
| ENST00000070846.11:c.2303A>G | ENSP00000070846.6:p.Lys768Arg | |
| ENST00000340811.9:c.2171A>G MANE Select | ENSP00000342800.5:p.Lys724Arg | |
| ENST00000070846.10:c.2303A>G | ENSP00000070846.6:p.Lys768Arg | |
| ENST00000340811.8:c.2171A>G | ENSP00000342800.4:p.Lys724Arg | |
| ENST00000613243.1:c.2303A>G | ENSP00000478295.1:p.Lys768Arg | |
| NM_001005242.2:c.2171A>G | NP_001005242.2:p.Lys724Arg | |
| NM_004572.3:c.2303A>G , LRG_398t1:c.2303A>G | NP_004563.2:p.Lys768Arg | |
| NM_001005242.3:c.2171A>G MANE Select | NP_001005242.2:p.Lys724Arg | |
| NM_004572.4:c.2303A>G | NP_004563.2:p.Lys768Arg |