Revel Score:
ENST00000273691
0.433
ENST00000344209 (MANE Select)
0.433
ENST00000383663
0.433
ENST00000393631
0.433
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.122022075C>T , CM000665.2:g.122022075C>T | GRCh38 |
| NC_000003.11:g.121740922C>T , CM000665.1:g.121740922C>T | GRCh37 |
| NC_000003.10:g.123223612C>T | NCBI36 |
| NG_031870.1:g.5206G>A | |
| NG_031870.2:g.43480G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344209.10:c.3G>A MANE Select | ENSP00000345667.5:p.Met1Ile | |
| ENST00000642615.1:c.3G>A | ENSP00000495499.1:p.Met1Ile | |
| ENST00000273691.7:c.3G>A | ENSP00000273691.3:p.Met1Ile | |
| ENST00000344209.9:c.3G>A | ENSP00000345667.5:p.Met1Ile | |
| ENST00000393631.5:c.3G>A | ENSP00000377251.1:p.Met1Ile | |
| ENST00000460554.1:n.124G>A | ||
| NM_001199799.1:c.3G>A | NP_001186728.1:p.Met1Ile | |
| NM_001199800.1:c.3G>A | NP_001186729.1:p.Met1Ile | |
| NM_175924.3:c.3G>A | NP_787120.1:p.Met1Ile | |
| XM_011512738.1:c.3G>A | XP_011511040.1:p.Met1Ile | |
| XM_011512739.1:c.-347-14914G>A | XP_011511041.1:n.-347-14914G>A | |
| XM_011512738.2:c.3G>A | XP_011511040.1:p.Met1Ile | |
| XM_011512739.2:c.-347-14914G>A | XP_011511041.1:n.-347-14914G>A | |
| NM_001199799.2:c.3G>A MANE Select | NP_001186728.1:p.Met1Ile | |
| NM_001199800.2:c.3G>A | NP_001186729.1:p.Met1Ile | |
| NM_175924.4:c.3G>A | NP_787120.1:p.Met1Ile |