Revel Score:
ENST00000324001 (MANE Select)
0.127
ENST00000341562
0.127
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40397250G>C , CM000681.2:g.40397250G>C | GRCh38 |
| NC_000019.9:g.40903157G>C , CM000681.1:g.40903157G>C | GRCh37 |
| NC_000019.8:g.45594997G>C | NCBI36 |
| NG_007979.1:g.21115C>G , LRG_265:g.21115C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324001.8:c.1102C>G MANE Select | ENSP00000326018.6:p.Arg368Gly | |
| ENST00000673881.1:c.685C>G | ENSP00000501070.1:p.Arg229Gly | |
| ENST00000674005.2:c.1387C>G | ENSP00000501261.1:p.Arg463Gly | |
| ENST00000674773.1:c.685C>G | ENSP00000502579.1:p.Arg229Gly | |
| ENST00000675517.1:c.977C>G | ||
| ENST00000676076.1:c.963C>G | ||
| ENST00000676260.1:c.1064C>G | ||
| ENST00000676316.1:c.989C>G | ||
| ENST00000291825.11:c.*1307C>G | ENSP00000291825.6:n.*1307C>G | |
| ENST00000324001.7:c.1102C>G | ENSP00000326018.6:p.Arg368Gly | |
| NM_020956.2:c.*1307C>G , LRG_265t1:c.*1307C>G | NP_066007.1:n.*1307C>G | |
| NM_181882.2:c.1102C>G , LRG_265t2:c.1102C>G | NP_870998.2:p.Arg368Gly | |
| XM_011527171.1:c.1102C>G | XP_011525473.1:p.Arg368Gly | |
| XM_011527171.2:c.1102C>G | XP_011525473.1:p.Arg368Gly | |
| XM_017027046.1:c.1000C>G | XP_016882535.1:p.Arg334Gly | |
| XM_017027047.1:c.1000C>G | XP_016882536.1:p.Arg334Gly | |
| NM_181882.3:c.1102C>G MANE Select | NP_870998.2:p.Arg368Gly |