gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119508823G>T , CM000663.2:g.119508823G>T | GRCh38 |
| NC_000001.10:g.120051446G>T , CM000663.1:g.120051446G>T | GRCh37 |
| NC_000001.9:g.119852969G>T | NCBI36 |
| NG_050909.1:g.6712G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369413.8:c.145+1202G>T MANE Select | ENSP00000358421.3:n.145+1202G>T | |
| ENST00000369413.7:c.145+1202G>T | ENSP00000358421.3:n.145+1202G>T | |
| ENST00000492140.1:n.280+1202G>T | ||
| ENST00000528909.1:c.145+1202G>T | ENSP00000432268.1:n.145+1202G>T | |
| ENST00000531340.5:c.145+1202G>T | ENSP00000435999.1:n.145+1202G>T | |
| NM_000862.2:c.145+1202G>T | NP_000853.1:n.145+1202G>T | |
| XM_011541314.1:c.151+1202G>T | XP_011539616.1:n.151+1202G>T | |
| NM_001328615.1:c.145+1202G>T | NP_001315544.1:n.145+1202G>T | |
| NM_000862.3:c.145+1202G>T MANE Select | NP_000853.1:n.145+1202G>T |