Linked Data
ClinVar Variation Id:
2804681
ClinVar RCV Id:
RCV003684215
dbSNP Id:
rs1200364118
gnomAD v2:
12-58157577-C-T
gnomAD v4:
12-57763794-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57763794C>T , CM000674.2:g.57763794C>T | GRCh38 |
| NC_000012.11:g.58157577C>T , CM000674.1:g.58157577C>T | GRCh37 |
| NC_000012.10:g.56443844C>T | NCBI36 |
| NG_007076.1:g.8400G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000713544.1:c.1311G>A | ENSP00000518840.1:p.Leu437= | |
| ENST00000713545.1:c.*235G>A | ENSP00000518841.1:n.*235G>A | |
| ENST00000228606.9:c.1230G>A MANE Select | ENSP00000228606.4:p.Leu410= | |
| ENST00000228606.8:c.1230G>A | ENSP00000228606.4:p.Leu410= | |
| ENST00000547344.5:n.1369G>A | ||
| NM_000785.3:c.1230G>A | NP_000776.1:p.Leu410= | |
| NM_000785.4:c.1230G>A MANE Select | NP_000776.1:p.Leu410= |