Revel Score:
ENST00000327674
0.647
ENST00000372563 (MANE Select)
0.647
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.106036662C>G , CM000685.2:g.106036662C>G | GRCh38 |
| NC_000023.10:g.105280653C>G , CM000685.1:g.105280653C>G | GRCh37 |
| NC_000023.9:g.105167309C>G | NCBI36 |
| NG_021252.1:g.7066G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372563.2:c.397G>C MANE Select | ENSP00000361644.1:p.Ala133Pro | |
| ENST00000327674.8:c.397G>C | ENSP00000329374.4:p.Ala133Pro | |
| ENST00000372563.1:c.397G>C | ENSP00000361644.1:p.Ala133Pro | |
| NM_000354.5:c.397G>C | NP_000345.2:p.Ala133Pro | |
| XM_005262180.3:c.397G>C | XP_005262237.1:p.Ala133Pro | |
| XM_006724683.1:c.397G>C | XP_006724746.1:p.Ala133Pro | |
| XM_005262180.4:c.397G>C | XP_005262237.1:p.Ala133Pro | |
| XM_006724683.2:c.397G>C | XP_006724746.1:p.Ala133Pro | |
| NM_000354.6:c.397G>C MANE Select | NP_000345.2:p.Ala133Pro |