Linked Data
dbSNP Id:
rs771938924
ExAC:
2:241808264 G / A
gnomAD v2:
2-241808264-G-A
gnomAD v4:
2-240868847-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240868847G>A , CM000664.2:g.240868847G>A | GRCh38 |
| NC_000002.11:g.241808264G>A , CM000664.1:g.241808264G>A | GRCh37 |
| NC_000002.10:g.241456937G>A | NCBI36 |
| NG_008005.1:g.5103G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.-19G>A MANE Select | ENSP00000302620.3:n.-19G>A | |
| ENST00000307503.3:c.-19G>A | ENSP00000302620.3:n.-19G>A | |
| ENST00000472436.1:n.2G>A | ||
| NM_000030.2:c.-19G>A | NP_000021.1:n.-19G>A | |
| XR_924060.1:n.405+1386C>T | ||
| NM_000030.3:c.-19G>A MANE Select | NP_000021.1:n.-19G>A |