MyVariant.info:
GRCh37
chr6:g.31918472A>C
Revel Score:
ENST00000483004
0.006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31950695A>C , CM000668.2:g.31950695A>C | GRCh38 |
| NC_000006.11:g.31918472A>C , CM000668.1:g.31918472A>C | GRCh37 |
| NC_000006.10:g.32026451A>C | NCBI36 |
| NG_008191.1:g.9752A>C , LRG_136:g.9752A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452035.7:n.2093A>C | ||
| ENST00000483004.2:c.1485A>C | ENSP00000419887.2:p.Ala495= | |
| ENST00000698628.1:c.1624+292A>C | ENSP00000513848.1:n.1624+292A>C | |
| ENST00000698629.1:n.1878A>C | ||
| ENST00000698630.1:n.2417A>C | ||
| ENST00000698631.1:n.2418A>C | ||
| ENST00000698632.1:n.3212A>C | ||
| ENST00000698633.1:n.3102A>C | ||
| ENST00000698636.1:n.1923A>C | ||
| ENST00000425368.7:c.1701A>C MANE Select | ENSP00000416561.2:p.Ala567= | |
| ENST00000425368.6:c.1701A>C | ENSP00000416561.2:p.Ala567= | |
| ENST00000456570.5:c.3207A>C | ENSP00000410815.1:p.Ala1069= | |
| ENST00000467360.1:n.827A>C | ||
| ENST00000477310.1:c.2754A>C | ENSP00000418996.1:p.Ala918= | |
| ENST00000483004.1:c.323A>C | ||
| NM_001710.5:c.1701A>C , LRG_136t1:c.1701A>C | NP_001701.2:p.Ala567= | |
| NM_001710.6:c.1701A>C MANE Select | NP_001701.2:p.Ala567= |