COSMIC:
COSM4830797 (not active)
Revel Score:
ENST00000374708
0.176
ENST00000341947 (MANE Select)
0.176
ENST00000357486
0.176
ENST00000374714
0.176
ENST00000374713
0.176
ENST00000395197
0.176
ENST00000374712
0.176
ENST00000361917
0.176
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00004368 (SAS)
Exomes Max Group AF
0.00004578 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33174048G>A , CM000668.2:g.33174048G>A | GRCh38 |
| NC_000006.11:g.33141825G>A , CM000668.1:g.33141825G>A | GRCh37 |
| NC_000006.10:g.33249803G>A | NCBI36 |
| NG_011589.1:g.23421C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361917.6:c.1065C>T | ||
| ENST00000341947.7:c.2492C>T MANE Select | ENSP00000339915.2:p.Ser831Leu | |
| ENST00000341947.6:c.2492C>T | ENSP00000339915.2:p.Ser831Leu | |
| ENST00000361917.5:c.2171C>T | ENSP00000355123.1:p.Ser724Leu | |
| ENST00000374708.8:c.2234C>T | ENSP00000363840.4:p.Ser745Leu | |
| ENST00000477772.1:n.272+2961C>T | ||
| NM_080679.2:c.2171C>T | NP_542410.2:p.Ser724Leu | |
| NM_080680.2:c.2492C>T | NP_542411.2:p.Ser831Leu | |
| NM_080681.2:c.2234C>T | NP_542412.2:p.Ser745Leu | |
| XM_011514298.1:c.1646C>T | XP_011512600.1:p.Ser549Leu | |
| XM_011514299.1:c.1778C>T | XP_011512601.1:p.Ser593Leu | |
| XM_011514300.1:c.1598C>T | XP_011512602.1:p.Ser533Leu | |
| XM_011514301.1:c.1535C>T | XP_011512603.1:p.Ser512Leu | |
| XM_011514302.1:c.1379C>T | XP_011512604.1:p.Ser460Leu | |
| XM_011514299.2:c.1778C>T | XP_011512601.1:p.Ser593Leu | |
| XM_011514300.2:c.1598C>T | XP_011512602.1:p.Ser533Leu | |
| XM_011514302.2:c.1379C>T | XP_011512604.1:p.Ser460Leu | |
| XM_017010250.1:c.2492C>T | XP_016865739.1:p.Ser831Leu | |
| XM_017010251.2:c.1310C>T | XP_016865740.1:p.Ser437Leu | |
| NM_080680.3:c.2492C>T MANE Select | NP_542411.2:p.Ser831Leu | |
| NM_080681.3:c.2234C>T | NP_542412.2:p.Ser745Leu | |
| NM_080679.3:c.2171C>T | NP_542410.2:p.Ser724Leu |