Revel Score:
ENST00000345530 (MANE Plus Clinical)
0.798
ENST00000281405 (MANE Select)
0.798
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00271598 (AFR)
Genomes Max Group AF
0.00233407 (AFR)
Exomes Max Group AF
0.00289998 (AFR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.19932428A>G , CM000664.2:g.19932428A>G | GRCh38 |
| NC_000002.11:g.20132189A>G , CM000664.1:g.20132189A>G | GRCh37 |
| NC_000002.10:g.19995670A>G | NCBI36 |
| NG_021212.1:g.62696T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281405.9:c.2678T>C MANE Select | ENSP00000281405.5:p.Leu893Ser | |
| ENST00000345530.8:c.2711T>C MANE Plus Clinical | ENSP00000314444.5:p.Leu904Ser | |
| ENST00000281405.8:c.2678T>C | ENSP00000281405.4:p.Leu893Ser | |
| ENST00000345530.7:c.2711T>C | ENSP00000314444.5:p.Leu904Ser | |
| ENST00000414212.5:c.*93T>C | ENSP00000390802.1:n.*93T>C | |
| ENST00000445063.5:c.2024-1019T>C | ||
| NM_001006657.1:c.2711T>C | NP_001006658.1:p.Leu904Ser | |
| NM_020779.3:c.2678T>C | NP_065830.2:p.Leu893Ser | |
| XM_011533007.1:c.1406T>C | XP_011531309.1:p.Leu469Ser | |
| XR_426989.2:n.2711T>C | ||
| XM_011533007.2:c.1406T>C | XP_011531309.1:p.Leu469Ser | |
| XR_001738862.1:n.2655T>C | ||
| XR_426989.3:n.2711T>C | ||
| NM_001006657.2:c.2711T>C MANE Plus Clinical | NP_001006658.1:p.Leu904Ser | |
| NM_020779.4:c.2678T>C MANE Select | NP_065830.2:p.Leu893Ser |