gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00173002 (SAS)
Genomes Max Group AF
0.00159464 (SAS)
Exomes Max Group AF
0.00168551 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1776585G>T , CM000679.2:g.1776585G>T | GRCh38 |
| NC_000017.10:g.1679879G>T , CM000679.1:g.1679879G>T | GRCh37 |
| NC_000017.9:g.1626629G>T | NCBI36 |
| NG_028180.1:g.19621G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254722.9:c.840G>T MANE Select | ENSP00000254722.4:p.Leu280= | |
| ENST00000254722.8:c.840G>T | ENSP00000254722.4:p.Leu280= | |
| ENST00000572048.1:c.279G>T | ENSP00000458484.1:p.Leu93= | |
| ENST00000572517.1:n.136G>T | ||
| ENST00000573763.1:c.234G>T | ENSP00000461405.1:p.Leu78= | |
| NM_002615.5:c.840G>T | NP_002606.3:p.Leu280= | |
| NM_001329903.1:c.840G>T | NP_001316832.1:p.Leu280= | |
| NM_001329904.1:c.279G>T | NP_001316833.1:p.Leu93= | |
| NM_001329905.1:c.279G>T | NP_001316834.1:p.Leu93= | |
| NM_002615.6:c.840G>T | NP_002606.3:p.Leu280= | |
| NM_002615.7:c.840G>T MANE Select | NP_002606.3:p.Leu280= | |
| NM_001329903.2:c.840G>T | NP_001316832.1:p.Leu280= | |
| NM_001329904.2:c.279G>T | NP_001316833.1:p.Leu93= | |
| NM_001329905.2:c.279G>T | NP_001316834.1:p.Leu93= |