gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.34531002 (MID)
Genomes Max Group AF
0.3385527 (SAS)
Exomes Max Group AF
0.34640989 (MID)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.27982484A>G , CM000684.2:g.27982484A>G | GRCh38 |
| NC_000022.10:g.28378472A>G , CM000684.1:g.28378472A>G | GRCh37 |
| NC_000022.9:g.26708472A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397906.7:c.7183T>C (TTC28) MANE Select | ENSP00000381003.2:p.Leu2395= | |
| ENST00000397906.6:c.7183T>C (TTC28) | ENSP00000381003.2:p.Leu2395= | |
| ENST00000612946.4:c.6802T>C (TTC28) | ENSP00000479834.1:p.Leu2268= | |
| NM_001145418.1:c.7183T>C (TTC28) | NP_001138890.1:p.Leu2395= | |
| NR_026963.1:n.251-11989A>G (TTC28-AS1) | ||
| XM_005261405.2:c.7159T>C (TTC28) | XP_005261462.1:p.Leu2387= | |
| XM_006724171.2:c.6829T>C (TTC28) | XP_006724234.1:p.Leu2277= | |
| XM_011530018.1:c.7105T>C (TTC28) | XP_011528320.1:p.Leu2369= | |
| XM_006724171.4:c.6829T>C (TTC28) | XP_006724234.1:p.Leu2277= | |
| XM_011530018.3:c.7105T>C (TTC28) | XP_011528320.1:p.Leu2369= | |
| XM_017028673.2:c.7093T>C (TTC28) | XP_016884162.1:p.Leu2365= | |
| NM_001145418.2:c.7183T>C (TTC28) MANE Select | NP_001138890.1:p.Leu2395= | |
| NM_001393403.1:c.7159T>C (TTC28) | NP_001380332.1:p.Leu2387= | |
| NM_001393404.1:c.6829T>C (TTC28) | NP_001380333.1:p.Leu2277= | |
| NM_001393405.1:c.6805T>C (TTC28) | NP_001380334.1:p.Leu2269= |