Linked Data
dbSNP Id:
rs1000372665
gnomAD v2:
11-124742727-C-T
gnomAD v3:
11-124872831-C-T
gnomAD v4:
11-124872831-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.124872831C>T , CM000673.2:g.124872831C>T | GRCh38 |
| NC_000011.9:g.124742727C>T , CM000673.1:g.124742727C>T | GRCh37 |
| NC_000011.8:g.124247937C>T | NCBI36 |
| NG_016214.1:g.12423C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397801.6:c.1331-53C>T MANE Select | ENSP00000380903.1:n.1331-53C>T | |
| ENST00000397801.5:c.1331-53C>T | ENSP00000380903.1:n.1331-53C>T | |
| ENST00000538940.5:c.1265-53C>T | ENSP00000441797.1:n.1265-53C>T | |
| NM_022370.3:c.1331-53C>T | NP_071765.2:n.1331-53C>T | |
| XM_011542953.1:c.2303-53C>T | XP_011541255.1:n.2303-53C>T | |
| XM_017018122.1:c.1265-53C>T | XP_016873611.1:n.1265-53C>T | |
| NM_022370.4:c.1331-53C>T MANE Select | NP_071765.2:n.1331-53C>T |