gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00002394 (NFE)
Exomes Max Group AF
0.0000254 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128328760C>T , CM000667.2:g.128328760C>T | GRCh38 |
| NC_000005.9:g.127664452C>T , CM000667.1:g.127664452C>T | GRCh37 |
| NC_000005.8:g.127692351C>T | NCBI36 |
| NG_008750.1:g.214284G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.1191G>A | ||
| ENST00000703785.1:n.1272G>A | ||
| ENST00000703786.1:n.1013G>A | ||
| ENST00000262464.9:c.4407G>A MANE Select | ENSP00000262464.4:p.Pro1469= | |
| ENST00000262464.8:c.4407G>A | ENSP00000262464.4:p.Pro1469= | |
| ENST00000507835.5:c.957G>A | ENSP00000426839.1:p.Pro319= | |
| ENST00000508053.5:c.4407G>A | ENSP00000424571.1:p.Pro1469= | |
| ENST00000508989.5:c.4308G>A | ENSP00000425596.1:p.Pro1436= | |
| ENST00000619499.4:c.4404G>A | ENSP00000482132.1:p.Pro1468= | |
| NM_001999.3:c.4407G>A | NP_001990.2:p.Pro1469= | |
| XM_017009228.2:c.4254G>A | XP_016864717.1:p.Pro1418= | |
| NM_001999.4:c.4407G>A MANE Select | NP_001990.2:p.Pro1469= |