ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0008565 (AMR)
Genomes Max Group AF
0.00119149 (AMR)
Exomes Max Group AF
0.0006358 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92499782A>G , CM000669.2:g.92499782A>G | GRCh38 |
| NC_000007.13:g.92129096A>G , CM000669.1:g.92129096A>G | GRCh37 |
| NC_000007.12:g.91967032A>G | NCBI36 |
| NG_008341.1:g.33750T>C | |
| NG_008341.2:g.33750T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.2640T>C MANE Select | ENSP00000248633.4:p.Tyr880= | |
| ENST00000248633.8:c.2640T>C | ENSP00000248633.4:p.Tyr880= | |
| ENST00000428214.5:c.2469T>C | ENSP00000394413.1:p.Tyr823= | |
| ENST00000438045.5:c.1674T>C | ENSP00000410438.1:p.Tyr558= | |
| ENST00000484913.5:n.2679T>C | ||
| ENST00000496420.5:n.2532T>C | ||
| NM_000466.2:c.2640T>C | NP_000457.1:p.Tyr880= | |
| NM_001282677.1:c.2469T>C | NP_001269606.1:p.Tyr823= | |
| NM_001282678.1:c.2016T>C | NP_001269607.1:p.Tyr672= | |
| XM_005250433.3:c.891T>C | XP_005250490.1:p.Tyr297= | |
| XR_242246.3:n.2736T>C | ||
| XM_017012319.2:c.891T>C | XP_016867808.1:p.Tyr297= | |
| XR_001744808.2:n.1667T>C | ||
| XR_242246.5:n.2687T>C | ||
| NM_000466.3:c.2640T>C MANE Select | NP_000457.1:p.Tyr880= | |
| NM_001282677.2:c.2469T>C | NP_001269606.1:p.Tyr823= | |
| NM_001282678.2:c.2016T>C | NP_001269607.1:p.Tyr672= |