Revel Score:
ENST00000330883
0.580
ENST00000392968
0.580
ENST00000262186 (MANE Select)
0.580
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150947386G>C , CM000669.2:g.150947386G>C | GRCh38 |
| NC_000007.13:g.150644474G>C , CM000669.1:g.150644474G>C | GRCh37 |
| NC_000007.12:g.150275407G>C | NCBI36 |
| NG_008916.1:g.35541C>G , LRG_288:g.35541C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.3927C>G | ||
| ENST00000262186.10:c.3094C>G MANE Select | ENSP00000262186.5:p.Arg1032Gly | |
| ENST00000330883.9:c.2074C>G | ENSP00000328531.4:p.Arg692Gly | |
| ENST00000262186.9:c.3094C>G | ENSP00000262186.5:p.Arg1032Gly | |
| ENST00000330883.8:c.2074C>G | ENSP00000328531.4:p.Arg692Gly | |
| NM_000238.3:c.3094C>G , LRG_288t1:c.3094C>G | NP_000229.1:p.Arg1032Gly | |
| NM_172057.2:c.2074C>G , LRG_288t3:c.2074C>G | NP_742054.1:p.Arg692Gly | |
| XM_011516185.1:c.2794C>G | XP_011514487.1:p.Arg932Gly | |
| XM_011516185.2:c.2794C>G | XP_011514487.1:p.Arg932Gly | |
| XM_017012195.1:c.2944C>G | XP_016867684.1:p.Arg982Gly | |
| XM_017012196.1:c.2917C>G | XP_016867685.1:p.Arg973Gly | |
| NM_000238.4:c.3094C>G MANE Select | NP_000229.1:p.Arg1032Gly | |
| NM_172057.3:c.2074C>G | NP_742054.1:p.Arg692Gly |