COSMIC:
dbSNP:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000247 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
Revel Score:
ENST00000373968
0.559
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.52771451G>A , CM000672.2:g.52771451G>A | GRCh38 |
| NC_000010.10:g.54531211G>A , CM000672.1:g.54531211G>A | GRCh37 |
| NC_000010.9:g.54201217G>A | NCBI36 |
| NG_008196.1:g.5250C>T , LRG_154:g.5250C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674931.1:c.185C>T MANE Select | ENSP00000502789.1:p.Pro62Leu | |
| ENST00000675947.1:c.185C>T | ENSP00000502615.1:p.Pro62Leu | |
| ENST00000373968.3:c.185C>T | ENSP00000363079.3:p.Pro62Leu | |
| NM_000242.2:c.185C>T , LRG_154t1:c.185C>T | NP_000233.1:p.Pro62Leu | |
| XM_006717861.2:c.185C>T | XP_006717924.1:p.Pro62Leu | |
| XM_011539816.1:c.185C>T | XP_011538118.1:p.Pro62Leu | |
| XM_006717861.4:c.185C>T | XP_006717924.1:p.Pro62Leu | |
| XM_011539816.3:c.185C>T | XP_011538118.1:p.Pro62Leu | |
| NM_000242.3:c.185C>T | NP_000233.1:p.Pro62Leu | |
| NM_001378373.1:c.185C>T MANE Select | NP_001365302.1:p.Pro62Leu | |
| NM_001378374.1:c.185C>T | NP_001365303.1:p.Pro62Leu |