Linked Data
dbSNP Id:
rs746360075
gnomAD v2:
2-46577707-C-A
gnomAD v3:
2-46350568-C-A
gnomAD v4:
2-46350568-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.46350568C>A , CM000664.2:g.46350568C>A | GRCh38 |
| NC_000002.11:g.46577707C>A , CM000664.1:g.46577707C>A | GRCh37 |
| NC_000002.10:g.46431211C>A | NCBI36 |
| NG_016000.1:g.58167C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263734.5:c.217+3505C>A MANE Select | ENSP00000263734.3:n.217+3505C>A | |
| ENST00000263734.4:c.217+3505C>A | ENSP00000263734.3:n.217+3505C>A | |
| ENST00000449347.5:c.217+3505C>A | ENSP00000406137.1:n.217+3505C>A | |
| ENST00000475822.1:n.408+3505C>A | ||
| NM_001430.4:c.217+3505C>A | NP_001421.2:n.217+3505C>A | |
| XM_011532698.1:c.256+3505C>A | XP_011531000.1:n.256+3505C>A | |
| XM_011532698.2:c.256+3505C>A | XP_011531000.1:n.256+3505C>A | |
| NM_001430.5:c.217+3505C>A MANE Select | NP_001421.2:n.217+3505C>A |