Revel Score:
ENST00000318003 (MANE Select)
0.134
ENST00000254346
0.134
gnomAD v4:
Joint Max Group AF
0.000011 (AFR)
Exomes Max Group AF
0.00002395 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.13929607G>T , CM000681.2:g.13929607G>T | GRCh38 |
| NC_000019.9:g.14040420G>T , CM000681.1:g.14040420G>T | GRCh37 |
| NC_000019.8:g.13901420G>T | NCBI36 |
| NG_013089.1:g.28465G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000679637.1:n.2081G>T | ||
| ENST00000679937.1:n.1356G>T | ||
| ENST00000680977.1:c.1507G>T | ||
| ENST00000681428.1:n.1581G>T | ||
| ENST00000681846.1:n.1511G>T | ||
| ENST00000318003.11:c.2657G>T MANE Select | ENSP00000313601.6:p.Arg886Leu | |
| ENST00000586955.5:c.2060G>T | ||
| ENST00000587508.1:c.1018G>T | ||
| ENST00000589606.5:c.2654G>T | ENSP00000467526.1:p.Arg885Leu | |
| NM_017721.4:c.2657G>T | NP_060191.3:p.Arg886Leu | |
| XM_005259972.2:c.2654G>T | XP_005260029.1:p.Arg885Leu | |
| XM_005259973.2:c.2654G>T | XP_005260030.1:p.Arg885Leu | |
| XM_005259974.2:c.2645G>T | XP_005260031.1:p.Arg882Leu | |
| XM_005259975.2:c.2642G>T | XP_005260032.1:p.Arg881Leu | |
| XM_005259973.3:c.2654G>T | XP_005260030.1:p.Arg885Leu | |
| XM_005259974.3:c.2645G>T | XP_005260031.1:p.Arg882Leu | |
| XM_024451562.1:c.2750G>T | XP_024307330.1:p.Arg917Leu | |
| XM_024451563.1:c.2747G>T | XP_024307331.1:p.Arg916Leu | |
| XM_024451564.1:c.2738G>T | XP_024307332.1:p.Arg913Leu | |
| XM_024451565.1:c.2735G>T | XP_024307333.1:p.Arg912Leu | |
| NM_017721.5:c.2657G>T MANE Select | NP_060191.3:p.Arg886Leu |