Linked Data
dbSNP Id:
rs758931451
ExAC:
17:17697019 G / T
gnomAD v2:
17-17697019-G-T
gnomAD v4:
17-17793705-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.17793705G>T , CM000679.2:g.17793705G>T | GRCh38 |
| NC_000017.10:g.17697019G>T , CM000679.1:g.17697019G>T | GRCh37 |
| NC_000017.9:g.17637744G>T | NCBI36 |
| NG_007101.2:g.117233G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000353383.6:c.757G>T MANE Select | ENSP00000323074.4:p.Ala253Ser | |
| ENST00000640861.1:c.691G>T | ENSP00000491773.1:p.Ala231Ser | |
| ENST00000353383.5:c.757G>T | ENSP00000323074.4:p.Ala253Ser | |
| ENST00000395774.1:c.757G>T | ENSP00000379120.1:p.Ala253Ser | |
| NM_030665.3:c.757G>T | NP_109590.3:p.Ala253Ser | |
| XM_017024025.1:c.757G>T | XP_016879514.1:p.Ala253Ser | |
| XM_017024026.1:c.757G>T | XP_016879515.1:p.Ala253Ser | |
| XM_017024027.1:c.757G>T | XP_016879516.1:p.Ala253Ser | |
| XM_017024028.2:c.757G>T | XP_016879517.1:p.Ala253Ser | |
| NM_030665.4:c.757G>T MANE Select | NP_109590.3:p.Ala253Ser |