Linked Data
dbSNP Id:
rs745737719
ExAC:
1:171621099 G / A
gnomAD v2:
1-171621099-G-A
gnomAD v3:
1-171651959-G-A
gnomAD v4:
1-171651959-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171651959G>A , CM000663.2:g.171651959G>A | GRCh38 |
| NC_000001.10:g.171621099G>A , CM000663.1:g.171621099G>A | GRCh37 |
| NC_000001.9:g.169887722G>A | NCBI36 |
| NG_008859.1:g.5675C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.604+49C>T MANE Select | ENSP00000037502.5:n.604+49C>T | |
| ENST00000638471.1:c.130+523C>T | ENSP00000491206.1:n.130+523C>T | |
| ENST00000037502.10:c.604+49C>T | ENSP00000037502.5:n.604+49C>T | |
| ENST00000614688.1:c.604+49C>T | ENSP00000478680.1:n.604+49C>T | |
| NM_000261.1:c.604+49C>T | NP_000252.1:n.604+49C>T | |
| NM_000261.2:c.604+49C>T MANE Select | NP_000252.1:n.604+49C>T |