Linked Data
ClinVar Variation Id:
2541757
ClinVar RCV Id:
RCV003256799
dbSNP Id:
rs759113804
ExAC:
3:138664735 A / G
gnomAD v2:
3-138664735-A-G
gnomAD v4:
3-138945893-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138945893A>G , CM000665.2:g.138945893A>G | GRCh38 |
| NC_000003.11:g.138664735A>G , CM000665.1:g.138664735A>G | GRCh37 |
| NC_000003.10:g.140147425A>G | NCBI36 |
| NG_012454.1:g.6248T>C | |
| NG_029796.1:g.3660A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648323.1:c.830T>C MANE Select | ENSP00000497217.1:p.Leu277Pro | |
| ENST00000330315.3:c.830T>C | ENSP00000333188.3:p.Leu277Pro | |
| NM_023067.3:c.830T>C | NP_075555.1:p.Leu277Pro | |
| NM_023067.4:c.830T>C MANE Select | NP_075555.1:p.Leu277Pro |