ClinVar RCV:
ClinVar Variation:
Revel Score:
ENST00000307340 (MANE Select)
0.234
ENST00000366943
0.234
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215934684T>G , CM000663.2:g.215934684T>G | GRCh38 |
| NC_000001.10:g.216108026T>G , CM000663.1:g.216108026T>G | GRCh37 |
| NC_000001.9:g.214174649T>G | NCBI36 |
| NG_009497.1:g.493713A>C | |
| NG_009497.2:g.493765A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.7232A>C MANE Select | ENSP00000305941.3:p.Gln2411Pro | |
| ENST00000674083.1:c.7232A>C | ENSP00000501296.1:p.Gln2411Pro | |
| ENST00000307340.7:c.7232A>C | ENSP00000305941.3:p.Gln2411Pro | |
| NM_206933.2:c.7232A>C | NP_996816.2:p.Gln2411Pro | |
| NM_206933.3:c.7232A>C | NP_996816.2:p.Gln2411Pro | |
| NM_206933.4:c.7232A>C MANE Select | NP_996816.3:p.Gln2411Pro |