Revel Score:
ENST00000350339
0.719
ENST00000291744 (MANE Select)
0.719
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134887245G>C , CM000671.2:g.134887245G>C | GRCh38 |
| NC_000009.11:g.137779091G>C , CM000671.1:g.137779091G>C | GRCh37 |
| NC_000009.10:g.136918912G>C | NCBI36 |
| NG_011649.1:g.11434G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291744.11:c.772G>C MANE Select | ENSP00000291744.6:p.Ala258Pro | |
| ENST00000291744.10:c.772G>C | ENSP00000291744.6:p.Ala258Pro | |
| ENST00000350339.3:c.658G>C | ENSP00000291741.5:p.Ala220Pro | |
| NM_004108.2:c.772G>C | NP_004099.2:p.Ala258Pro | |
| NM_015837.2:c.658G>C | NP_056652.1:p.Ala220Pro | |
| XM_006717015.2:c.625G>C | XP_006717078.1:p.Ala209Pro | |
| XM_011518392.1:c.739G>C | XP_011516694.1:p.Ala247Pro | |
| XM_006717015.4:c.625G>C | XP_006717078.1:p.Ala209Pro | |
| XM_011518392.3:c.739G>C | XP_011516694.1:p.Ala247Pro | |
| NM_004108.3:c.772G>C MANE Select | NP_004099.2:p.Ala258Pro | |
| NM_015837.3:c.658G>C | NP_056652.1:p.Ala220Pro |