Linked Data
gnomAD v4:
11-72722433-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72722433A>G , CM000673.2:g.72722433A>G | GRCh38 |
| NC_000011.9:g.72433478A>G , CM000673.1:g.72433478A>G | GRCh37 |
| NC_000011.8:g.72111126A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393609.8:c.509+4187T>C MANE Select | ENSP00000377233.3:n.509+4187T>C | |
| ENST00000359373.9:c.509+4187T>C | ENSP00000352332.5:n.509+4187T>C | |
| ENST00000393609.7:c.509+4187T>C | ENSP00000377233.3:n.509+4187T>C | |
| NM_001040118.2:c.509+4187T>C | NP_001035207.1:n.509+4187T>C | |
| NM_001040118.3:c.509+4187T>C MANE Select | NP_001035207.1:n.509+4187T>C |