Revel Score:
ENST00000373960 (MANE Select)
0.915
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219418500C>A , CM000664.2:g.219418500C>A | GRCh38 |
| NC_000002.11:g.220283222C>A , CM000664.1:g.220283222C>A | GRCh37 |
| NC_000002.10:g.219991466C>A | NCBI36 |
| NG_008043.1:g.5124C>A , LRG_380:g.5124C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373960.4:c.38C>A MANE Select | ENSP00000363071.3:p.Ser13Tyr | |
| ENST00000373960.3:c.38C>A | ENSP00000363071.3:p.Ser13Tyr | |
| NM_001927.3:c.38C>A , LRG_380t1:c.38C>A | NP_001918.3:p.Ser13Tyr | |
| NM_001927.4:c.38C>A MANE Select | NP_001918.3:p.Ser13Tyr | |
| NM_001382708.1:c.38C>A | NP_001369637.1:p.Ser13Tyr | |
| NM_001382709.1:c.38C>A | NP_001369638.1:p.Ser13Tyr | |
| NM_001382710.1:c.38C>A | NP_001369639.1:p.Ser13Tyr | |
| NM_001382711.1:c.38C>A | NP_001369640.1:p.Ser13Tyr | |
| NM_001382712.1:c.38C>A | NP_001369641.1:p.Ser13Tyr | |
| NM_001382713.1:c.38C>A | NP_001369642.1:p.Ser13Tyr |