COSMIC:
COSM3757000 (not active)
COSM3757001 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.67739661 (NFE)
Genomes Max Group AF
0.66842834 (NFE)
Exomes Max Group AF
0.67766704 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48297081A>G , CM000681.2:g.48297081A>G | GRCh38 |
| NC_000019.9:g.48800338A>G , CM000681.1:g.48800338A>G | GRCh37 |
| NC_000019.8:g.53492150A>G | NCBI36 |
| NG_033251.1:g.27995T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474199.6:c.*359T>C | ENSP00000501357.1:n.*359T>C | |
| ENST00000674207.1:c.*1624T>C | ENSP00000501374.1:n.*1624T>C | |
| ENST00000674294.1:c.2019T>C MANE Select | ENSP00000501363.1:p.Ser673= | |
| ENST00000315396.7:c.1908T>C | ENSP00000318429.7:p.Ser636= | |
| ENST00000474199.5:n.2107T>C | ||
| ENST00000497273.1:n.1454T>C | ||
| NM_144577.3:c.1908T>C | NP_653178.3:p.Ser636= | |
| XM_005259413.2:c.2019T>C | XP_005259470.1:p.Ser673= | |
| XM_005259414.2:c.2019T>C | XP_005259471.1:p.Ser673= | |
| XM_005259415.2:c.2019T>C | XP_005259472.1:p.Ser673= | |
| XM_005259416.3:c.1335T>C | XP_005259473.1:p.Ser445= | |
| XM_011527515.1:c.1908T>C | XP_011525817.1:p.Ser636= | |
| XM_011527516.1:c.1908T>C | XP_011525818.1:p.Ser636= | |
| NM_001364171.1:c.2019T>C | NP_001351100.1:p.Ser673= | |
| NM_144577.4:c.1908T>C | NP_653178.3:p.Ser636= | |
| XM_005259414.3:c.2019T>C | XP_005259471.1:p.Ser673= | |
| XM_005259415.3:c.2019T>C | XP_005259472.1:p.Ser673= | |
| XM_005259416.4:c.1335T>C | XP_005259473.1:p.Ser445= | |
| XM_011527515.2:c.1908T>C | XP_011525817.1:p.Ser636= | |
| XM_011527516.2:c.1908T>C | XP_011525818.1:p.Ser636= | |
| XM_017027483.1:c.1743T>C | XP_016882972.1:p.Ser581= | |
| XM_024451782.1:c.2058T>C | XP_024307550.1:p.Ser686= | |
| XM_024451783.1:c.2019T>C | XP_024307551.1:p.Ser673= | |
| NM_001364171.2:c.2019T>C MANE Select | NP_001351100.1:p.Ser673= |