Revel Score:
ENST00000373960 (MANE Select)
0.952
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219425720A>C , CM000664.2:g.219425720A>C | GRCh38 |
| NC_000002.11:g.220290442A>C , CM000664.1:g.220290442A>C | GRCh37 |
| NC_000002.10:g.219998686A>C | NCBI36 |
| NG_008043.1:g.12344A>C , LRG_380:g.12344A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000477226.6:n.820A>C | ||
| ENST00000683013.1:n.734A>C | ||
| ENST00000373960.4:c.1346A>C MANE Select | ENSP00000363071.3:p.Lys449Thr | |
| ENST00000373960.3:c.1346A>C | ENSP00000363071.3:p.Lys449Thr | |
| ENST00000483395.1:n.201A>C | ||
| NM_001927.3:c.1346A>C , LRG_380t1:c.1346A>C | NP_001918.3:p.Lys449Thr | |
| NM_001927.4:c.1346A>C MANE Select | NP_001918.3:p.Lys449Thr | |
| NM_001382708.1:c.1343A>C | NP_001369637.1:p.Lys448Thr | |
| NM_001382709.1:c.914A>C | NP_001369638.1:p.Lys305Thr | |
| NM_001382710.1:c.1277A>C | NP_001369639.1:p.Lys426Thr | |
| NM_001382711.1:c.1325A>C | NP_001369640.1:p.Lys442Thr | |
| NM_001382712.1:c.1346A>C | NP_001369641.1:p.Lys449Thr | |
| NM_001382713.1:c.1076A>C | NP_001369642.1:p.Lys359Thr |