ClinVar RCV:
ClinVar Variation:
dbSNP:
Revel Score:
ENST00000251810 (MANE Select)
0.662
ENST00000535248
0.662
ENST00000519962
0.662
ENST00000519317
0.662
ENST00000395912
0.662
ENST00000522368
0.776
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.102208143G>C , CM000670.2:g.102208143G>C | GRCh38 |
| NC_000008.10:g.103220371G>C , CM000670.1:g.103220371G>C | GRCh37 |
| NC_000008.9:g.103289547G>C | NCBI36 |
| NG_016617.1:g.35976C>G , LRG_788:g.35976C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251810.8:c.1046C>G MANE Select | ENSP00000251810.3:p.Ala349Gly | |
| ENST00000251810.7:c.1046C>G | ENSP00000251810.3:p.Ala349Gly | |
| ENST00000395910.6:n.433C>G | ||
| ENST00000395912.6:c.890C>G | ENSP00000379248.2:p.Ala297Gly | |
| ENST00000519317.5:c.410C>G | ENSP00000430641.1:p.Ala137Gly | |
| ENST00000519962.5:c.191C>G | ENSP00000429140.1:p.Ala64Gly | |
| ENST00000522368.5:c.1215C>G | ||
| ENST00000522394.1:c.379C>G | ENSP00000429578.1:n.379C>G | |
| ENST00000621845.1:c.884C>G | ENSP00000484318.1:p.Ala295Gly | |
| NM_001172477.1:c.1262C>G , LRG_788t1:c.1262C>G | NP_001165948.1:p.Ala421Gly | |
| NM_001172478.1:c.890C>G | NP_001165949.1:p.Ala297Gly | |
| NM_015713.4:c.1046C>G , LRG_788t2:c.1046C>G | NP_056528.2:p.Ala349Gly | |
| NM_001172478.2:c.890C>G | NP_001165949.1:p.Ala297Gly | |
| NM_015713.5:c.1046C>G MANE Select | NP_056528.2:p.Ala349Gly |