COSMIC:
COSM6083694 (not active)
Revel Score:
ENST00000318003 (MANE Select)
0.052
ENST00000397486
0.052
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01645342 (SAS)
Genomes Max Group AF
0.01121561 (SAS)
Exomes Max Group AF
0.01661335 (SAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.13918779C>T , CM000681.2:g.13918779C>T | GRCh38 |
| NC_000019.9:g.14029592C>T , CM000681.1:g.14029592C>T | GRCh37 |
| NC_000019.8:g.13890592C>T | NCBI36 |
| NG_013089.1:g.17637C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318003.11:c.980C>T MANE Select | ENSP00000313601.6:p.Ser327Leu | |
| ENST00000585896.5:n.1037C>T | ||
| ENST00000586955.5:c.517C>T | ||
| ENST00000589138.5:n.104C>T | ||
| ENST00000589606.5:c.980C>T | ENSP00000467526.1:p.Ser327Leu | |
| NM_017721.4:c.980C>T | NP_060191.3:p.Ser327Leu | |
| XM_005259972.2:c.980C>T | XP_005260029.1:p.Ser327Leu | |
| XM_005259973.2:c.980C>T | XP_005260030.1:p.Ser327Leu | |
| XM_005259974.2:c.980C>T | XP_005260031.1:p.Ser327Leu | |
| XM_005259975.2:c.980C>T | XP_005260032.1:p.Ser327Leu | |
| XM_005259973.3:c.980C>T | XP_005260030.1:p.Ser327Leu | |
| XM_005259974.3:c.980C>T | XP_005260031.1:p.Ser327Leu | |
| XM_024451562.1:c.980C>T | XP_024307330.1:p.Ser327Leu | |
| XM_024451563.1:c.980C>T | XP_024307331.1:p.Ser327Leu | |
| XM_024451564.1:c.980C>T | XP_024307332.1:p.Ser327Leu | |
| XM_024451565.1:c.980C>T | XP_024307333.1:p.Ser327Leu | |
| NM_017721.5:c.980C>T MANE Select | NP_060191.3:p.Ser327Leu |