gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.66164812 (EAS)
Genomes Max Group AF
0.66164812 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186236304T>G , CM000666.2:g.186236304T>G | GRCh38 |
| NC_000004.11:g.187157458T>G , CM000666.1:g.187157458T>G | GRCh37 |
| NC_000004.10:g.187394452T>G | NCBI36 |
| NG_012095.2:g.32326T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264690.11:c.329-477T>G MANE Select | ENSP00000264690.6:n.329-477T>G | |
| ENST00000264690.10:c.329-477T>G | ENSP00000264690.6:n.329-477T>G | |
| ENST00000428196.5:c.329-477T>G | ENSP00000412366.1:n.329-477T>G | |
| ENST00000446598.6:c.215-477T>G | ENSP00000415563.2:n.215-477T>G | |
| ENST00000511406.5:n.359-477T>G | ||
| ENST00000511608.5:c.472-477T>G | ||
| ENST00000513864.2:c.215-477T>G | ENSP00000424469.2:n.215-477T>G | |
| NM_000892.3:c.329-477T>G | NP_000883.2:n.329-477T>G | |
| XM_011531930.1:c.329-477T>G | XP_011530232.1:n.329-477T>G | |
| XM_011531931.1:c.329-477T>G | XP_011530233.1:n.329-477T>G | |
| XM_011531932.1:c.215-477T>G | XP_011530234.1:n.215-477T>G | |
| XM_011531933.1:c.215-477T>G | XP_011530235.1:n.215-477T>G | |
| XM_011531934.1:c.-309-477T>G | XP_011530236.1:n.-309-477T>G | |
| NM_000892.4:c.329-477T>G | NP_000883.2:n.329-477T>G | |
| NM_001318394.1:c.215-477T>G | NP_001305323.1:n.215-477T>G | |
| NM_001318396.1:c.-309-477T>G | NP_001305325.1:n.-309-477T>G | |
| XM_011531930.2:c.329-477T>G | XP_011530232.1:n.329-477T>G | |
| XM_017008181.1:c.329-477T>G | XP_016863670.1:n.329-477T>G | |
| XM_017008182.1:c.329-477T>G | XP_016863671.1:n.329-477T>G | |
| XM_017008183.1:c.329-477T>G | XP_016863672.1:n.329-477T>G | |
| NM_000892.5:c.329-477T>G MANE Select | NP_000883.2:n.329-477T>G | |
| NM_001318394.2:c.215-477T>G | NP_001305323.1:n.215-477T>G | |
| NM_001318396.2:c.-309-477T>G | NP_001305325.1:n.-309-477T>G |