gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50913028C>A , CM000676.2:g.50913028C>A | GRCh38 |
| NC_000014.8:g.51379746C>A , CM000676.1:g.51379746C>A | GRCh37 |
| NC_000014.7:g.50449496C>A | NCBI36 |
| NG_012796.1:g.36503G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216392.8:c.1620+1G>T MANE Select | ENSP00000216392.7:n.1620+1G>T | |
| ENST00000216392.7:c.1620+1G>T | ENSP00000216392.7:n.1620+1G>T | |
| ENST00000532462.5:c.1620+1G>T | ENSP00000431657.1:n.1620+1G>T | |
| ENST00000544180.6:c.1518+1G>T | ENSP00000443787.1:n.1518+1G>T | |
| NM_001163940.1:c.1518+1G>T | NP_001157412.1:n.1518+1G>T | |
| NM_002863.4:c.1620+1G>T | NP_002854.3:n.1620+1G>T | |
| NM_002863.5:c.1620+1G>T MANE Select | NP_002854.3:n.1620+1G>T | |
| NM_001163940.2:c.1518+1G>T | NP_001157412.1:n.1518+1G>T |