Revel Score:
ENST00000321612 (MANE Select)
0.929
gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6554691G>C , CM000671.2:g.6554691G>C | GRCh38 |
| NC_000009.11:g.6554691G>C , CM000671.1:g.6554691G>C | GRCh37 |
| NC_000009.10:g.6544691G>C | NCBI36 |
| NG_016397.1:g.96002C>G , LRG_643:g.96002C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.2293C>G MANE Select | ENSP00000370737.4:p.Pro765Ala | |
| ENST00000638233.1:n.728C>G | ||
| ENST00000638661.1:c.493C>G | ENSP00000491369.1:p.Pro165Ala | |
| ENST00000638694.1:n.480C>G | ||
| ENST00000639318.1:c.493C>G | ENSP00000491932.1:p.Pro165Ala | |
| ENST00000639364.1:n.1993C>G | ||
| ENST00000639443.1:n.1861C>G | ||
| ENST00000639639.1:c.-6C>G | ENSP00000491312.1:n.-6C>G | |
| ENST00000639954.1:n.2001C>G | ||
| ENST00000640505.1:n.532C>G | ||
| ENST00000321612.6:c.2293C>G | ENSP00000370737.3:p.Pro765Ala | |
| ENST00000467946.1:n.219C>G | ||
| NM_000170.2:c.2293C>G , LRG_643t1:c.2293C>G | NP_000161.2:p.Pro765Ala | |
| NM_000170.3:c.2293C>G MANE Select | NP_000161.2:p.Pro765Ala |