Linked Data
dbSNP Id:
rs201020743
ExAC:
21:27264055 G / A
gnomAD v2:
21-27264055-G-A
gnomAD v4:
21-25891743-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.25891743G>A , CM000683.2:g.25891743G>A | GRCh38 |
| NC_000021.8:g.27264055G>A , CM000683.1:g.27264055G>A | GRCh37 |
| NC_000021.7:g.26185926G>A | NCBI36 |
| NG_007376.1:g.284078C>T | |
| NG_007376.2:g.284386C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000707132.1:n.2157C>T | ||
| ENST00000707133.1:n.587C>T | ||
| ENST00000707134.1:n.856C>T | ||
| ENST00000346798.8:c.2190C>T MANE Select | ENSP00000284981.4:p.Ser730= | |
| ENST00000346798.7:c.2190C>T | ENSP00000284981.4:p.Ser730= | |
| ENST00000348990.9:c.1965C>T | ENSP00000345463.5:p.Ser655= | |
| ENST00000354192.7:c.1797C>T | ENSP00000346129.3:p.Ser599= | |
| ENST00000357903.7:c.2133C>T | ENSP00000350578.3:p.Ser711= | |
| ENST00000358918.7:c.2136C>T | ENSP00000351796.3:p.Ser712= | |
| ENST00000359726.7:c.1860C>T | ENSP00000352760.4:p.Ser620= | |
| ENST00000439274.6:c.2022C>T | ENSP00000398879.2:p.Ser674= | |
| ENST00000440126.7:c.2118C>T | ENSP00000387483.2:p.Ser706= | |
| ENST00000464867.1:n.537C>T | ||
| NM_000484.3:c.2190C>T | NP_000475.1:p.Ser730= | |
| NM_001136016.3:c.2118C>T | NP_001129488.1:p.Ser706= | |
| NM_001136129.2:c.1797C>T | NP_001129601.1:p.Ser599= | |
| NM_001136130.2:c.2022C>T | NP_001129602.1:p.Ser674= | |
| NM_001136131.2:c.1860C>T | NP_001129603.1:p.Ser620= | |
| NM_001204301.1:c.2136C>T | NP_001191230.1:p.Ser712= | |
| NM_001204302.1:c.2079C>T | NP_001191231.1:p.Ser693= | |
| NM_001204303.1:c.1911C>T | NP_001191232.1:p.Ser637= | |
| NM_201413.2:c.2133C>T | NP_958816.1:p.Ser711= | |
| NM_201414.2:c.1965C>T | NP_958817.1:p.Ser655= | |
| NM_000484.4:c.2190C>T MANE Select | NP_000475.1:p.Ser730= | |
| NM_001136129.3:c.1797C>T | NP_001129601.1:p.Ser599= | |
| NM_001136130.3:c.2022C>T | NP_001129602.1:p.Ser674= | |
| NM_001204301.2:c.2136C>T | NP_001191230.1:p.Ser712= | |
| NM_001204302.2:c.2079C>T | NP_001191231.1:p.Ser693= | |
| NM_001204303.2:c.1911C>T | NP_001191232.1:p.Ser637= | |
| NM_201413.3:c.2133C>T | NP_958816.1:p.Ser711= | |
| NM_201414.3:c.1965C>T | NP_958817.1:p.Ser655= | |
| NM_001136131.3:c.1860C>T | NP_001129603.1:p.Ser620= | |
| NM_001385253.1:c.2022C>T | NP_001372182.1:p.Ser674= |