Linked Data
ClinVar Variation Id:
2748020
ClinVar RCV Id:
RCV003516857
dbSNP Id:
rs562592634
ExAC:
14:74726481 A / G
gnomAD v3:
14-74259778-A-G
gnomAD v4:
14-74259778-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.74259778A>G , CM000676.2:g.74259778A>G | GRCh38 |
| NC_000014.8:g.74726481A>G , CM000676.1:g.74726481A>G | GRCh37 |
| NC_000014.7:g.73796234A>G | NCBI36 |
| NG_013092.1:g.25307A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261980.3:c.756A>G MANE Select | ENSP00000261980.2:p.Leu252= | |
| ENST00000261980.2:c.756A>G | ENSP00000261980.2:p.Leu252= | |
| NM_182894.2:c.756A>G | NP_878314.1:p.Leu252= | |
| XM_011536719.1:c.756A>G | XP_011535021.1:p.Leu252= | |
| NM_182894.3:c.756A>G MANE Select | NP_878314.1:p.Leu252= |