Linked Data
dbSNP Id:
rs755577467
ExAC:
1:214830435 A / G
gnomAD v2:
1-214830435-A-G
gnomAD v4:
1-214657092-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.214657092A>G , CM000663.2:g.214657092A>G | GRCh38 |
| NC_000001.10:g.214830435A>G , CM000663.1:g.214830435A>G | GRCh37 |
| NC_000001.9:g.212897058A>G | NCBI36 |
| NG_046787.1:g.58914A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706765.1:c.8468A>G | ENSP00000516538.1:p.Glu2823Gly | |
| ENST00000706766.1:n.744A>G | ||
| ENST00000366955.8:c.8645A>G MANE Select | ENSP00000355922.3:p.Glu2882Gly | |
| ENST00000366955.7:c.8645A>G | ENSP00000355922.3:p.Glu2882Gly | |
| ENST00000469862.1:n.416A>G | ||
| NM_016343.3:c.8645A>G | NP_057427.3:p.Glu2882Gly | |
| XM_011509082.1:c.8468A>G | XP_011507384.1:p.Glu2823Gly | |
| XM_011509083.1:c.7580A>G | XP_011507385.1:p.Glu2527Gly | |
| XM_011509082.3:c.8468A>G | XP_011507384.1:p.Glu2823Gly | |
| XM_017000086.2:c.8645A>G | XP_016855575.1:p.Glu2882Gly | |
| NM_016343.4:c.8645A>G MANE Select | NP_057427.3:p.Glu2882Gly |