Revel Score:
ENST00000399220 (MANE Select)
0.305
ENST00000538756
0.305
ENST00000358309
0.305
ENST00000541347
0.305
ENST00000542107
0.305
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.39265666C>T , CM000665.2:g.39265666C>T | GRCh38 |
| NC_000003.11:g.39307157C>T , CM000665.1:g.39307157C>T | GRCh37 |
| NC_000003.10:g.39282161C>T | NCBI36 |
| NG_016362.1:g.21070G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399220.3:c.844G>A MANE Select | ENSP00000382166.3:p.Ala282Thr | |
| ENST00000358309.3:c.940G>A | ENSP00000351059.3:p.Ala314Thr | |
| ENST00000399220.2:c.844G>A | ENSP00000382166.2:p.Ala282Thr | |
| ENST00000541347.5:c.844G>A | ENSP00000439140.1:p.Ala282Thr | |
| ENST00000542107.5:c.844G>A | ENSP00000444928.1:p.Ala282Thr | |
| NM_001171171.1:c.844G>A | NP_001164642.1:p.Ala282Thr | |
| NM_001171172.1:c.844G>A | NP_001164643.1:p.Ala282Thr | |
| NM_001171174.1:c.940G>A | NP_001164645.1:p.Ala314Thr | |
| NM_001337.3:c.844G>A | NP_001328.1:p.Ala282Thr | |
| NM_001337.4:c.844G>A MANE Select | NP_001328.1:p.Ala282Thr | |
| NM_001171171.2:c.844G>A | NP_001164642.1:p.Ala282Thr | |
| NM_001171172.2:c.844G>A | NP_001164643.1:p.Ala282Thr |