Linked Data
dbSNP Id:
rs764444522
ExAC:
4:17513614 G / C
gnomAD v2:
4-17513614-G-C
gnomAD v4:
4-17511991-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.17511991G>C , CM000666.2:g.17511991G>C | GRCh38 |
| NC_000004.11:g.17513614G>C , CM000666.1:g.17513614G>C | GRCh37 |
| NC_000004.10:g.17122712G>C | NCBI36 |
| NG_008763.1:g.5244C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000281243.10:c.64C>G MANE Select | ENSP00000281243.5:p.Leu22Val | |
| ENST00000281243.9:c.64C>G | ENSP00000281243.5:p.Leu22Val | |
| ENST00000428702.6:c.64C>G | ENSP00000390944.2:p.Leu22Val | |
| ENST00000507439.5:c.64C>G | ENSP00000423227.1:p.Leu22Val | |
| ENST00000508623.5:c.64C>G | ENSP00000426377.1:p.Leu22Val | |
| ENST00000513615.5:c.64C>G | ENSP00000422759.1:p.Leu22Val | |
| ENST00000514300.1:c.64C>G | ENSP00000426039.1:p.Leu22Val | |
| NM_000320.2:c.64C>G | NP_000311.2:p.Leu22Val | |
| NM_001306140.1:c.64C>G | NP_001293069.1:p.Leu22Val | |
| XR_241677.1:n.227C>G | ||
| NR_156494.1:n.244C>G | ||
| NM_000320.3:c.64C>G MANE Select | NP_000311.2:p.Leu22Val | |
| NM_001306140.2:c.64C>G | NP_001293069.1:p.Leu22Val | |
| NR_156494.2:n.100C>G |