COSMIC:
COSM3760608 (not active)
Revel Score:
ENST00000308979 (MANE Select)
0.056
ENST00000502213
0.056
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.98130523 (EAS)
Genomes Max Group AF
0.96560536 (EAS)
Exomes Max Group AF
0.98092231 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.38797027C>A , CM000666.2:g.38797027C>A | GRCh38 |
| NC_000004.11:g.38798648C>A , CM000666.1:g.38798648C>A | GRCh37 |
| NC_000004.10:g.38475043C>A | NCBI36 |
| NG_016228.1:g.12765G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308979.7:c.1805G>T MANE Select | ENSP00000354932.2:p.Ser602Ile | |
| ENST00000308979.6:c.1805G>T | ENSP00000354932.2:p.Ser602Ile | |
| ENST00000502213.6:c.1805G>T | ENSP00000421259.1:p.Ser602Ile | |
| ENST00000505744.5:n.235+3830G>T | ||
| NM_003263.3:c.1805G>T | NP_003254.2:p.Ser602Ile | |
| XM_005262662.3:c.1805G>T | XP_005262719.1:p.Ser602Ile | |
| XM_006714028.2:c.1805G>T | XP_006714091.1:p.Ser602Ile | |
| XM_011513742.1:c.1805G>T | XP_011512044.1:p.Ser602Ile | |
| XM_011513743.1:c.1805G>T | XP_011512045.1:p.Ser602Ile | |
| XM_011513744.1:c.1805G>T | XP_011512046.1:p.Ser602Ile | |
| XM_011513745.1:c.1805G>T | XP_011512047.1:p.Ser602Ile | |
| XR_925162.1:n.2079G>T | ||
| XR_925163.1:n.2079G>T | ||
| XR_925165.1:n.2079G>T | ||
| XM_005262662.5:c.1805G>T | XP_005262719.1:p.Ser602Ile | |
| XM_011513742.3:c.1805G>T | XP_011512044.1:p.Ser602Ile | |
| XM_011513745.3:c.1805G>T | XP_011512047.1:p.Ser602Ile | |
| XM_017008571.2:c.1805G>T | XP_016864060.1:p.Ser602Ile | |
| XM_017008572.2:c.1805G>T | XP_016864061.1:p.Ser602Ile | |
| XM_024454196.1:c.1805G>T | XP_024309964.1:p.Ser602Ile | |
| XM_024454197.1:c.1805G>T | XP_024309965.1:p.Ser602Ile | |
| XM_024454198.1:c.1805G>T | XP_024309966.1:p.Ser602Ile | |
| XM_024454199.1:c.205+3830G>T | XP_024309967.1:n.205+3830G>T | |
| XR_925163.2:n.2079G>T | ||
| XR_925165.2:n.2079G>T | ||
| NM_003263.4:c.1805G>T MANE Select | NP_003254.2:p.Ser602Ile |