COSMIC:
COSM4988842 (not active)
Revel Score:
ENST00000258080 (MANE Select)
0.015
ENST00000352222
0.015
ENST00000437202
0.015
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.03098119 (MID)
Genomes Max Group AF
0.02510992 (NFE)
Exomes Max Group AF
0.03141625 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.74530427G>T , CM000664.2:g.74530427G>T | GRCh38 |
| NC_000002.11:g.74757554G>T , CM000664.1:g.74757554G>T | GRCh37 |
| NC_000002.10:g.74611062G>T | NCBI36 |
| NG_012163.1:g.6023G>T | |
| NG_033037.1:g.4421C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000437202.2:c.421G>T | ENSP00000399166.2:p.Ala141Ser | |
| ENST00000462909.6:n.189-18G>T | ||
| ENST00000465521.2:n.2G>T | ||
| ENST00000467961.6:n.189-34G>T | ||
| ENST00000484881.6:n.92-190G>T | ||
| ENST00000696725.1:n.318-14G>T | ||
| ENST00000696726.1:n.135-190G>T | ||
| ENST00000696727.1:c.421G>T | ENSP00000512836.1:p.Ala141Ser | |
| ENST00000696728.1:c.421G>T | ENSP00000512837.1:p.Ala141Ser | |
| ENST00000696729.1:n.26G>T | ||
| ENST00000696730.1:n.8G>T | ||
| ENST00000258080.8:c.421G>T MANE Select | ENSP00000258080.3:p.Ala141Ser | |
| ENST00000258080.7:c.421G>T | ENSP00000258080.3:p.Ala141Ser | |
| ENST00000352222.7:c.421G>T | ENSP00000312893.3:p.Ala141Ser | |
| ENST00000437202.1:c.382G>T | ENSP00000399166.1:p.Ala128Ser | |
| ENST00000462909.5:n.189-18G>T | ||
| ENST00000465521.1:n.2G>T | ||
| ENST00000467961.5:n.139-34G>T | ||
| ENST00000484352.5:n.259G>T | ||
| ENST00000484881.5:n.92-190G>T | ||
| NM_013247.4:c.421G>T | NP_037379.1:p.Ala141Ser | |
| NM_145074.2:c.421G>T | NP_659540.1:p.Ala141Ser | |
| XM_005264266.2:c.421G>T | XP_005264323.1:p.Ala141Ser | |
| NM_001321727.1:c.421G>T | NP_001308656.1:p.Ala141Ser | |
| NM_001321728.1:c.421G>T | NP_001308657.1:p.Ala141Ser | |
| NR_135769.1:n.1023G>T | ||
| NR_135770.1:n.509-18G>T | ||
| NR_135771.1:n.509-34G>T | ||
| NR_135772.1:n.509-14G>T | ||
| NM_013247.5:c.421G>T MANE Select | NP_037379.1:p.Ala141Ser |