Linked Data
dbSNP Id:
rs201096489
ExAC:
1:171621483 G / C
gnomAD v2:
1-171621483-G-C
gnomAD v3:
1-171652343-G-C
gnomAD v4:
1-171652343-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171652343G>C , CM000663.2:g.171652343G>C | GRCh38 |
| NC_000001.10:g.171621483G>C , CM000663.1:g.171621483G>C | GRCh37 |
| NC_000001.9:g.169888106G>C | NCBI36 |
| NG_008859.1:g.5291C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.269C>G MANE Select | ENSP00000037502.5:p.Ala90Gly | |
| ENST00000638471.1:c.130+139C>G | ENSP00000491206.1:n.130+139C>G | |
| ENST00000037502.10:c.269C>G | ENSP00000037502.5:p.Ala90Gly | |
| ENST00000614688.1:c.269C>G | ENSP00000478680.1:p.Ala90Gly | |
| NM_000261.1:c.269C>G | NP_000252.1:p.Ala90Gly | |
| NM_000261.2:c.269C>G MANE Select | NP_000252.1:p.Ala90Gly |