ClinVar RCV:
ClinVar Variation:
dbSNP:
Revel Score:
ENST00000344327 (MANE Select)
0.204
ENST00000532133
0.204
ENST00000348423
0.204
ENST00000360497
0.204
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.101453673T>C , CM000673.2:g.101453673T>C | GRCh38 |
| NC_000011.9:g.101324404T>C , CM000673.1:g.101324404T>C | GRCh37 |
| NC_000011.8:g.100829614T>C | NCBI36 |
| NG_011476.1:g.135256A>G | |
| NG_011476.2:g.135256A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344327.8:c.2621A>G MANE Select | ENSP00000340913.3:p.Lys874Arg | |
| ENST00000344327.7:c.2621A>G | ENSP00000340913.3:p.Lys874Arg | |
| ENST00000348423.8:c.2273A>G | ENSP00000343672.4:p.Lys758Arg | |
| ENST00000360497.4:c.2456A>G | ENSP00000353687.4:p.Lys819Arg | |
| ENST00000532133.5:c.2387A>G | ENSP00000435574.1:p.Lys796Arg | |
| ENST00000532184.1:n.613A>G | ||
| NM_004621.5:c.2621A>G | NP_004612.2:p.Lys874Arg | |
| XM_006718898.2:c.2546A>G | XP_006718961.1:p.Lys849Arg | |
| XM_011542968.1:c.2456A>G | XP_011541270.1:p.Lys819Arg | |
| XM_011542968.3:c.2456A>G | XP_011541270.1:p.Lys819Arg | |
| XM_017018221.2:c.2273A>G | XP_016873710.1:p.Lys758Arg | |
| XR_001747948.2:n.2978A>G | ||
| NM_004621.6:c.2621A>G MANE Select | NP_004612.2:p.Lys874Arg |