Linked Data
dbSNP Id:
rs1224387472
gnomAD v2:
17-15903223-T-G
gnomAD v3:
17-15999909-T-G
gnomAD v4:
17-15999909-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.15999909T>G , CM000679.2:g.15999909T>G | GRCh38 |
| NC_000017.10:g.15903223T>G , CM000679.1:g.15903223T>G | GRCh37 |
| NC_000017.9:g.15843948T>G | NCBI36 |
| NG_029806.1:g.5530T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261647.10:c.61T>G MANE Select | ENSP00000261647.5:p.Cys21Gly | |
| ENST00000261647.9:c.61T>G | ENSP00000261647.5:p.Cys21Gly | |
| ENST00000466729.5:c.126T>G | ||
| ENST00000470399.1:c.76T>G | ENSP00000465082.1:p.Cys26Gly | |
| ENST00000475723.5:c.108T>G | ||
| ENST00000497842.6:n.86T>G | ||
| ENST00000583704.1:n.86T>G | ||
| NM_001271420.1:c.-398T>G | NP_001258349.1:n.-398T>G | |
| NM_017775.3:c.61T>G | NP_060245.3:p.Cys21Gly | |
| XM_011523950.1:c.61T>G | XP_011522252.1:p.Cys21Gly | |
| XM_017024801.2:c.61T>G | XP_016880290.2:p.Cys21Gly | |
| XM_017024802.2:c.61T>G | XP_016880291.2:p.Cys21Gly | |
| XM_024450814.1:c.61T>G | XP_024306582.1:p.Cys21Gly | |
| NM_017775.4:c.61T>G MANE Select | NP_060245.3:p.Cys21Gly | |
| NM_001271420.2:c.-398T>G | NP_001258349.1:n.-398T>G |