Revel Score:
ENST00000302850 (MANE Select)
0.927
ENST00000341500
0.927
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7122658G>T , CM000681.2:g.7122658G>T | GRCh38 |
| NC_000019.9:g.7122669G>T , CM000681.1:g.7122669G>T | GRCh37 |
| NC_000019.8:g.7073669G>T | NCBI36 |
| NG_008852.2:g.176343C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302850.10:c.3485C>A MANE Select | ENSP00000303830.4:p.Ala1162Glu | |
| ENST00000302850.9:c.3485C>A | ENSP00000303830.4:p.Ala1162Glu | |
| ENST00000341500.9:c.3449C>A | ENSP00000342838.4:p.Ala1150Glu | |
| ENST00000593970.1:n.331C>A | ||
| ENST00000601099.1:n.396C>A | ||
| NM_000208.2:c.3485C>A | NP_000199.2:p.Ala1162Glu | |
| NM_000208.3:c.3485C>A | NP_000199.2:p.Ala1162Glu | |
| NM_001079817.1:c.3449C>A | NP_001073285.1:p.Ala1150Glu | |
| NM_001079817.2:c.3449C>A | NP_001073285.1:p.Ala1150Glu | |
| XM_011527988.1:c.3560C>A | XP_011526290.1:p.Ala1187Glu | |
| XM_011527989.1:c.3524C>A | XP_011526291.1:p.Ala1175Glu | |
| XM_011527988.2:c.3482C>A | XP_011526290.2:p.Ala1161Glu | |
| XM_011527989.3:c.3446C>A | XP_011526291.2:p.Ala1149Glu | |
| NM_000208.4:c.3485C>A MANE Select | NP_000199.2:p.Ala1162Glu | |
| NM_001079817.3:c.3449C>A | NP_001073285.1:p.Ala1150Glu |