Revel Score:
ENST00000265104 (MANE Select)
0.068
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13718980G>T , CM000667.2:g.13718980G>T | GRCh38 |
| NC_000005.9:g.13719089G>T , CM000667.1:g.13719089G>T | GRCh37 |
| NC_000005.8:g.13772089G>T | NCBI36 |
| NG_013081.1:g.230501C>A | |
| NG_013081.2:g.230501C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.12401C>A MANE Select | ENSP00000265104.4:p.Ala4134Asp | |
| ENST00000681290.1:c.12356C>A | ENSP00000505288.1:p.Ala4119Asp | |
| ENST00000265104.4:c.12401C>A | ENSP00000265104.4:p.Ala4134Asp | |
| NM_001369.2:c.12401C>A | NP_001360.1:p.Ala4134Asp | |
| XM_005248262.2:c.12356C>A | XP_005248319.1:p.Ala4119Asp | |
| XM_005248262.3:c.12509C>A | XP_005248319.2:p.Ala4170Asp | |
| XM_017009177.1:c.12509C>A | XP_016864666.1:p.Ala4170Asp | |
| XM_017009178.1:c.11414C>A | XP_016864667.1:p.Ala3805Asp | |
| XM_017009179.2:c.11414C>A | XP_016864668.1:p.Ala3805Asp | |
| XM_017009180.1:c.12509C>A | XP_016864669.1:p.Ala4170Asp | |
| XM_017009185.1:c.7598C>A | XP_016864674.1:p.Ala2533Asp | |
| XM_017009186.1:c.7151C>A | XP_016864675.1:p.Ala2384Asp | |
| XM_017009188.1:c.6488C>A | XP_016864677.1:p.Ala2163Asp | |
| XM_024454388.1:c.11414C>A | XP_024310156.1:p.Ala3805Asp | |
| XM_024454389.1:c.11003C>A | XP_024310157.1:p.Ala3668Asp | |
| NM_001369.3:c.12401C>A MANE Select | NP_001360.1:p.Ala4134Asp |