Revel Score:
ENST00000322893 (MANE Select)
0.965
ENST00000420622
0.965
ENST00000394968
0.965
ENST00000394964
0.965
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.62950522C>T , CM000676.2:g.62950522C>T | GRCh38 |
| NC_000014.8:g.63417240C>T , CM000676.1:g.63417240C>T | GRCh37 |
| NC_000014.7:g.62486993C>T | NCBI36 |
| NG_034062.1:g.99717G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322893.12:c.980G>A MANE Select | ENSP00000321427.7:p.Arg327His | |
| ENST00000322893.11:c.980G>A | ENSP00000321427.7:p.Arg327His | |
| ENST00000394964.3:n.1145G>A | ||
| ENST00000394968.2:c.806G>A | ENSP00000378419.1:p.Arg269His | |
| ENST00000420622.6:c.980G>A | ENSP00000395439.2:p.Arg327His | |
| NM_139318.4:c.980G>A | NP_647479.2:p.Arg327His | |
| NM_172375.2:c.980G>A | NP_758963.1:p.Arg327His | |
| XM_011536658.1:c.980G>A | XP_011534960.1:p.Arg327His | |
| NM_139318.5:c.980G>A MANE Select | NP_647479.2:p.Arg327His | |
| NM_172375.3:c.980G>A | NP_758963.1:p.Arg327His |