Revel Score:
ENST00000360581 (MANE Select)
0.100
ENST00000381542
0.100
ENST00000359791
0.100
ENST00000531252
0.100
ENST00000381539
0.100
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.34834424A>C , CM000669.2:g.34834424A>C | GRCh38 |
| NC_000007.13:g.34874036A>C , CM000669.1:g.34874036A>C | GRCh37 |
| NC_000007.12:g.34840561A>C | NCBI36 |
| NG_012185.1:g.181140A>C | |
| NG_021366.1:g.4908T>G | |
| NG_012185.2:g.181140A>C | |
| NG_021366.2:g.4908T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360581.6:c.721A>C MANE Select | ENSP00000353788.1:p.Ser241Arg | |
| ENST00000359791.5:c.721A>C | ENSP00000352839.1:p.Ser241Arg | |
| ENST00000360581.5:c.721A>C | ENSP00000353788.1:p.Ser241Arg | |
| ENST00000381539.3:c.721A>C | ENSP00000370950.3:p.Ser241Arg | |
| ENST00000381542.5:c.523A>C | ENSP00000370953.1:p.Ser175Arg | |
| ENST00000381544.6:c.*140A>C | ENSP00000370955.2:n.*140A>C | |
| ENST00000396095.6:c.*216A>C | ENSP00000379402.2:n.*216A>C | |
| ENST00000531252.5:c.688A>C | ENSP00000433258.1:p.Ser230Arg | |
| NM_001300933.1:c.688A>C | NP_001287862.1:p.Ser230Arg | |
| NM_001300934.1:c.523A>C | NP_001287863.1:p.Ser175Arg | |
| NM_001300935.1:c.721A>C | NP_001287864.1:p.Ser241Arg | |
| NM_207172.1:c.721A>C | NP_997055.1:p.Ser241Arg | |
| NM_207173.1:c.721A>C | NP_997056.1:p.Ser241Arg | |
| NM_001300933.2:c.688A>C | NP_001287862.1:p.Ser230Arg | |
| NM_207172.2:c.721A>C MANE Select | NP_997055.1:p.Ser241Arg | |
| NM_207173.2:c.721A>C | NP_997056.1:p.Ser241Arg | |
| NM_001300934.2:c.523A>C | NP_001287863.1:p.Ser175Arg | |
| NM_001300935.2:c.721A>C | NP_001287864.1:p.Ser241Arg |