gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128242017G>T , CM000669.2:g.128242017G>T | GRCh38 |
| NC_000007.13:g.127882070G>T , CM000669.1:g.127882070G>T | GRCh37 |
| NC_000007.12:g.127669306G>T | NCBI36 |
| NG_007450.1:g.5740G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308868.5:c.-29+711G>T MANE Select | ENSP00000312652.4:n.-29+711G>T | |
| ENST00000308868.4:c.-29+711G>T | ENSP00000312652.4:n.-29+711G>T | |
| NM_000230.2:c.-29+711G>T | NP_000221.1:n.-29+711G>T | |
| XM_005250340.3:c.-29+711G>T | XP_005250397.1:n.-29+711G>T | |
| XM_005250340.5:c.-29+711G>T | XP_005250397.1:n.-29+711G>T | |
| NM_000230.3:c.-29+711G>T MANE Select | NP_000221.1:n.-29+711G>T |