Revel Score:
ENST00000392968
0.896
ENST00000262186 (MANE Select)
0.896
ENST00000430723
0.896
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150959673A>C , CM000669.2:g.150959673A>C | GRCh38 |
| NC_000007.13:g.150656761A>C , CM000669.1:g.150656761A>C | GRCh37 |
| NC_000007.12:g.150287694A>C | NCBI36 |
| NG_008916.1:g.23254T>G , LRG_288:g.23254T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.1204T>G | ||
| ENST00000262186.10:c.371T>G MANE Select | ENSP00000262186.5:p.Met124Arg | |
| ENST00000262186.9:c.371T>G | ENSP00000262186.5:p.Met124Arg | |
| ENST00000430723.4:c.194T>G | ENSP00000387657.4:p.Met65Arg | |
| ENST00000532957.5:n.594T>G | ||
| NM_000238.3:c.371T>G , LRG_288t1:c.371T>G | NP_000229.1:p.Met124Arg | |
| NM_172056.2:c.371T>G , LRG_288t2:c.371T>G | NP_742053.1:p.Met124Arg | |
| XM_011516185.1:c.71T>G | XP_011514487.1:p.Met24Arg | |
| XM_011516186.1:c.371T>G | XP_011514488.1:p.Met124Arg | |
| XM_011516185.2:c.71T>G | XP_011514487.1:p.Met24Arg | |
| XM_011516186.3:c.371T>G | XP_011514488.1:p.Met124Arg | |
| XM_017012195.1:c.221T>G | XP_016867684.1:p.Met74Arg | |
| XM_017012196.1:c.194T>G | XP_016867685.1:p.Met65Arg | |
| NM_000238.4:c.371T>G MANE Select | NP_000229.1:p.Met124Arg |