Linked Data
ClinVar Variation Id:
2912801
ClinVar RCV Id:
RCV003624976
dbSNP Id:
rs143343506
ExAC:
14:51410956 G / A
gnomAD v2:
14-51410956-G-A
gnomAD v3:
14-50944238-G-A
gnomAD v4:
14-50944238-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50944238G>A , CM000676.2:g.50944238G>A | GRCh38 |
| NC_000014.8:g.51410956G>A , CM000676.1:g.51410956G>A | GRCh37 |
| NC_000014.7:g.50480706G>A | NCBI36 |
| NG_012796.1:g.5293C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216392.8:c.166C>T MANE Select | ENSP00000216392.7:p.Leu56= | |
| ENST00000216392.7:c.166C>T | ENSP00000216392.7:p.Leu56= | |
| ENST00000530336.2:n.233C>T | ||
| ENST00000532462.5:c.166C>T | ENSP00000431657.1:p.Leu56= | |
| ENST00000544180.6:c.166C>T | ENSP00000443787.1:p.Leu56= | |
| NM_001163940.1:c.166C>T | NP_001157412.1:p.Leu56= | |
| NM_002863.4:c.166C>T | NP_002854.3:p.Leu56= | |
| NM_002863.5:c.166C>T MANE Select | NP_002854.3:p.Leu56= | |
| NM_001163940.2:c.166C>T | NP_001157412.1:p.Leu56= |