Linked Data
dbSNP Id:
rs752514082
ExAC:
21:46306817 T / C
gnomAD v2:
21-46306817-T-C
gnomAD v4:
21-44886902-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44886902T>C , CM000683.2:g.44886902T>C | GRCh38 |
| NC_000021.8:g.46306817T>C , CM000683.1:g.46306817T>C | GRCh37 |
| NC_000021.7:g.45131245T>C | NCBI36 |
| NG_007270.2:g.46937A>G , LRG_76:g.46937A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696946.1:n.1288A>G | ||
| ENST00000302347.10:c.2153A>G | ENSP00000303242.6:p.Glu718Gly | |
| ENST00000652462.1:c.2081A>G MANE Select | ENSP00000498780.1:p.Glu694Gly | |
| ENST00000302347.9:c.2081A>G | ENSP00000303242.5:p.Glu694Gly | |
| ENST00000355153.8:c.2081A>G | ENSP00000347279.4:p.Glu694Gly | |
| ENST00000397850.6:c.2081A>G | ENSP00000380948.2:p.Glu694Gly | |
| ENST00000397852.5:c.2081A>G | ENSP00000380950.1:p.Glu694Gly | |
| ENST00000397854.7:c.1910A>G | ENSP00000380952.3:p.Glu637Gly | |
| ENST00000397857.5:c.2081A>G | ENSP00000380955.1:p.Glu694Gly | |
| ENST00000475170.5:n.1481A>G | ||
| ENST00000479202.5:n.440A>G | ||
| ENST00000498666.5:n.4137A>G | ||
| ENST00000523323.5:c.*1908A>G | ENSP00000427732.1:n.*1908A>G | |
| ENST00000610622.4:c.*772A>G | ENSP00000480700.1:n.*772A>G | |
| NM_000211.4:c.2081A>G | NP_000202.3:p.Glu694Gly | |
| NM_001127491.2:c.2081A>G | NP_001120963.2:p.Glu694Gly | |
| NM_001303238.1:c.1874A>G | NP_001290167.1:p.Glu625Gly | |
| XM_006724001.1:c.1874A>G | XP_006724064.1:p.Glu625Gly | |
| XM_006724001.2:c.1874A>G | XP_006724064.1:p.Glu625Gly | |
| NM_000211.5:c.2081A>G MANE Select | NP_000202.3:p.Glu694Gly | |
| NM_001127491.3:c.2081A>G | NP_001120963.2:p.Glu694Gly | |
| NM_001303238.2:c.1874A>G | NP_001290167.1:p.Glu625Gly |