gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.89122697A>T , CM000663.2:g.89122697A>T | GRCh38 |
| NC_000001.10:g.89588380A>T , CM000663.1:g.89588380A>T | GRCh37 |
| NC_000001.9:g.89360968A>T | NCBI36 |
| NG_046995.1:g.8463T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370466.4:c.-17-714T>A MANE Select | ENSP00000359497.3:n.-17-714T>A | |
| ENST00000370466.3:c.-17-714T>A | ENSP00000359497.3:n.-17-714T>A | |
| ENST00000464839.5:c.-17-714T>A | ENSP00000434282.1:n.-17-714T>A | |
| NM_004120.4:c.-17-714T>A | NP_004111.2:n.-17-714T>A | |
| XR_002958570.1:n.4086A>T | ||
| NM_004120.5:c.-17-714T>A MANE Select | NP_004111.2:n.-17-714T>A |