COSMIC:
COSM4486109 (not active)
Revel Score:
ENST00000269228 (MANE Select)
0.761
ENST00000412552
0.761
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00355201 (EAS)
Genomes Max Group AF
0.00087529 (NFE)
Exomes Max Group AF
0.00394524 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23538572G>A , CM000680.2:g.23538572G>A | GRCh38 |
| NC_000018.9:g.21118536G>A , CM000680.1:g.21118536G>A | GRCh37 |
| NC_000018.8:g.19372534G>A | NCBI36 |
| NG_012795.1:g.53046C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269228.10:c.3011C>T MANE Select | ENSP00000269228.4:p.Ser1004Leu | |
| ENST00000269228.9:c.3011C>T | ENSP00000269228.4:p.Ser1004Leu | |
| ENST00000591051.1:c.2089C>T | ||
| ENST00000591075.1:n.644C>T | ||
| ENST00000591955.1:n.354C>T | ||
| NM_000271.4:c.3011C>T | NP_000262.2:p.Ser1004Leu | |
| XM_005258277.1:c.3062C>T | XP_005258334.1:p.Ser1021Leu | |
| XM_005258278.3:c.3062C>T | XP_005258335.1:p.Ser1021Leu | |
| XM_005258279.1:c.3011C>T | XP_005258336.1:p.Ser1004Leu | |
| XM_006722479.2:c.3062C>T | XP_006722542.1:p.Ser1021Leu | |
| XM_011526015.1:c.2597C>T | XP_011524317.1:p.Ser866Leu | |
| XM_005258278.5:c.3062C>T | XP_005258335.1:p.Ser1021Leu | |
| XM_005258279.2:c.3011C>T | XP_005258336.1:p.Ser1004Leu | |
| XM_006722479.3:c.3062C>T | XP_006722542.1:p.Ser1021Leu | |
| XM_017025784.1:c.3062C>T | XP_016881273.1:p.Ser1021Leu | |
| XM_017025785.1:c.3062C>T | XP_016881274.1:p.Ser1021Leu | |
| XM_017025786.1:c.3011C>T | XP_016881275.1:p.Ser1004Leu | |
| XM_017025787.1:c.3011C>T | XP_016881276.1:p.Ser1004Leu | |
| NM_000271.5:c.3011C>T MANE Select | NP_000262.2:p.Ser1004Leu |