COSMIC:
COSM3723555 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.3351407 (AFR)
Genomes Max Group AF
0.32872357 (AFR)
Exomes Max Group AF
0.33990808 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7042621A>G , CM000679.2:g.7042621A>G | GRCh38 |
| NC_000017.10:g.6945940A>G , CM000679.1:g.6945940A>G | GRCh37 |
| NC_000017.9:g.6886664A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000574600.3:c.489T>C MANE Select | ENSP00000460927.2:p.Leu163= | |
| ENST00000662352.3:c.489T>C | ENSP00000499634.1:p.Leu163= | |
| ENST00000673828.2:c.489T>C | ENSP00000501313.1:p.Leu163= | |
| ENST00000308009.5:c.561T>C | ENSP00000310490.1:p.Leu187= | |
| ENST00000447225.1:c.489T>C | ENSP00000394449.1:p.Leu163= | |
| ENST00000573338.1:n.677+309T>C | ||
| NM_153357.1:c.561T>C | NP_699188.1:p.Leu187= | |
| XM_005256488.2:c.846T>C | XP_005256545.2:p.Leu282= | |
| XM_005256488.4:c.846T>C | XP_005256545.2:p.Leu282= | |
| XM_017024281.1:c.846T>C | XP_016879770.1:p.Leu282= | |
| XM_017024282.2:c.703+309T>C | XP_016879771.1:n.703+309T>C | |
| NM_153357.2:c.489T>C | NP_699188.2:p.Leu163= | |
| NM_001370549.1:c.489T>C MANE Select | NP_001357478.1:p.Leu163= | |
| NM_001370553.1:c.489T>C | NP_001357482.1:p.Leu163= | |
| NM_153357.3:c.489T>C | NP_699188.2:p.Leu163= |