Revel Score:
ENST00000370314 (MANE Select)
0.913
ENST00000370311
0.913
ENST00000535043
0.913
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.152197734T>C , CM000685.2:g.152197734T>C | GRCh38 |
| NC_000023.10:g.151366206T>C , CM000685.1:g.151366206T>C | GRCh37 |
| NC_000023.9:g.151116862T>C | NCBI36 |
| NG_007102.1:g.258625A>G | |
| NG_007102.2:g.258625A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370314.9:c.830A>G MANE Select | ENSP00000359337.4:p.Tyr277Cys | |
| ENST00000370314.8:c.830A>G | ENSP00000359337.4:p.Tyr277Cys | |
| ENST00000535043.1:c.830A>G | ENSP00000443527.1:p.Tyr277Cys | |
| NM_000808.3:c.830A>G | NP_000799.1:p.Tyr277Cys | |
| XM_005274659.1:c.830A>G | XP_005274716.1:p.Tyr277Cys | |
| XM_006724811.1:c.830A>G | XP_006724874.1:p.Tyr277Cys | |
| XM_011531133.1:c.830A>G | XP_011529435.1:p.Tyr277Cys | |
| XM_011531134.1:c.830A>G | XP_011529436.1:p.Tyr277Cys | |
| XM_006724811.3:c.830A>G | XP_006724874.1:p.Tyr277Cys | |
| NM_000808.4:c.830A>G MANE Select | NP_000799.1:p.Tyr277Cys |