Linked Data
dbSNP Id:
rs770792248
ExAC:
2:189899897 G / T
gnomAD v2:
2-189899897-G-T
gnomAD v4:
2-189035171-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189035171G>T , CM000664.2:g.189035171G>T | GRCh38 |
| NC_000002.11:g.189899897G>T , CM000664.1:g.189899897G>T | GRCh37 |
| NC_000002.10:g.189608142G>T | NCBI36 |
| NG_011799.1:g.149709C>A | |
| NG_011799.2:g.149709C>A | |
| NG_011799.3:g.195131C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374866.9:c.4114-16C>A MANE Select | ENSP00000364000.3:n.4114-16C>A | |
| ENST00000374866.7:c.4114-16C>A | ENSP00000364000.3:n.4114-16C>A | |
| ENST00000618828.1:c.2953-16C>A | ENSP00000482184.1:n.2953-16C>A | |
| NM_000393.3:c.4114-16C>A | NP_000384.2:n.4114-16C>A | |
| XM_011510573.1:c.3976-16C>A | XP_011508875.1:n.3976-16C>A | |
| NM_000393.4:c.4114-16C>A | NP_000384.2:n.4114-16C>A | |
| XM_011510573.3:c.3976-16C>A | XP_011508875.1:n.3976-16C>A | |
| NM_000393.5:c.4114-16C>A MANE Select | NP_000384.2:n.4114-16C>A |