Linked Data
dbSNP Id:
rs1400506500
gnomAD v2:
16-17232321-A-C
gnomAD v3:
16-17138464-A-C
gnomAD v4:
16-17138464-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.17138464A>C , CM000678.2:g.17138464A>C | GRCh38 |
| NC_000016.9:g.17232321A>C , CM000678.1:g.17232321A>C | GRCh37 |
| NC_000016.8:g.17139822A>C | NCBI36 |
| NG_015843.1:g.337418T>G | |
| NG_015843.2:g.337418T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261381.7:c.1655T>G MANE Select | ENSP00000261381.6:p.Ile552Ser | |
| ENST00000261381.6:c.1655T>G | ENSP00000261381.6:p.Ile552Ser | |
| NM_022166.3:c.1655T>G | NP_071449.1:p.Ile552Ser | |
| XM_011522574.1:c.1655T>G | XP_011520876.1:p.Ile552Ser | |
| XR_933141.1:n.397A>C | ||
| NR_135179.1:n.369A>C | ||
| XM_017023539.2:c.1655T>G | XP_016879028.1:p.Ile552Ser | |
| XM_017023540.2:c.1655T>G | XP_016879029.1:p.Ile552Ser | |
| NM_022166.4:c.1655T>G MANE Select | NP_071449.1:p.Ile552Ser |