Revel Score:
ENST00000311550 (MANE Select)
0.933
ENST00000541819
0.933
ENST00000299267
0.933
ENST00000400188
0.933
ENST00000545868
0.933
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.26561099C>T , CM000677.2:g.26561099C>T | GRCh38 |
| NC_000015.9:g.26806246C>T , CM000677.1:g.26806246C>T | GRCh37 |
| NC_000015.8:g.24357339C>T | NCBI36 |
| NG_012836.1:g.217682G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299267.9:c.913G>A | ENSP00000299267.4:p.Ala305Thr | |
| ENST00000311550.10:c.913G>A MANE Select | ENSP00000308725.5:p.Ala305Thr | |
| ENST00000635832.1:n.956G>A | ||
| ENST00000635994.1:c.596G>A | ||
| ENST00000636466.1:c.658G>A | ENSP00000489768.1:p.Ala220Thr | |
| ENST00000638099.1:c.814G>A | ENSP00000490678.1:p.Ala272Thr | |
| ENST00000299267.8:c.913G>A | ENSP00000299267.4:p.Ala305Thr | |
| ENST00000311550.9:c.913G>A | ENSP00000308725.5:p.Ala305Thr | |
| ENST00000400188.7:c.700G>A | ENSP00000383049.3:p.Ala234Thr | |
| ENST00000541819.6:c.1081G>A | ENSP00000442408.2:p.Ala361Thr | |
| ENST00000545868.4:c.658G>A | ENSP00000439169.1:p.Ala220Thr | |
| ENST00000554556.5:c.*374G>A | ENSP00000451077.1:n.*374G>A | |
| ENST00000555094.5:n.825G>A | ||
| ENST00000555632.5:c.*745G>A | ENSP00000452041.1:n.*745G>A | |
| ENST00000622697.4:c.658G>A | ENSP00000481004.1:p.Ala220Thr | |
| ENST00000628124.2:c.658G>A | ENSP00000486819.1:p.Ala220Thr | |
| NM_000814.5:c.913G>A | NP_000805.1:p.Ala305Thr | |
| NM_001191320.1:c.658G>A | NP_001178249.1:p.Ala220Thr | |
| NM_001191321.2:c.700G>A | NP_001178250.1:p.Ala234Thr | |
| NM_001278631.1:c.658G>A | NP_001265560.1:p.Ala220Thr | |
| NM_021912.4:c.913G>A | NP_068712.1:p.Ala305Thr | |
| XM_011521428.1:c.736G>A | XP_011519730.1:p.Ala246Thr | |
| XM_011521428.3:c.736G>A | XP_011519730.1:p.Ala246Thr | |
| NM_000814.6:c.913G>A MANE Select | NP_000805.1:p.Ala305Thr | |
| NM_001191321.3:c.700G>A | NP_001178250.1:p.Ala234Thr | |
| NM_021912.5:c.913G>A | NP_068712.1:p.Ala305Thr | |
| NM_001191320.2:c.658G>A | NP_001178249.1:p.Ala220Thr | |
| NM_001278631.2:c.658G>A | NP_001265560.1:p.Ala220Thr |