Linked Data
dbSNP Id:
rs542064804
ExAC:
5:13769088 T / C
gnomAD v2:
5-13769088-T-C
gnomAD v4:
5-13768979-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13768979T>C , CM000667.2:g.13768979T>C | GRCh38 |
| NC_000005.9:g.13769088T>C , CM000667.1:g.13769088T>C | GRCh37 |
| NC_000005.8:g.13822088T>C | NCBI36 |
| NG_013081.1:g.180502A>G | |
| NG_013081.2:g.180502A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.9878A>G MANE Select | ENSP00000265104.4:p.Glu3293Gly | |
| ENST00000681290.1:c.9833A>G | ENSP00000505288.1:p.Glu3278Gly | |
| ENST00000265104.4:c.9878A>G | ENSP00000265104.4:p.Glu3293Gly | |
| ENST00000504001.3:n.590A>G | ||
| NM_001369.2:c.9878A>G | NP_001360.1:p.Glu3293Gly | |
| XM_005248262.2:c.9833A>G | XP_005248319.1:p.Glu3278Gly | |
| XM_005248262.3:c.9986A>G | XP_005248319.2:p.Glu3329Gly | |
| XM_017009177.1:c.9986A>G | XP_016864666.1:p.Glu3329Gly | |
| XM_017009178.1:c.8891A>G | XP_016864667.1:p.Glu2964Gly | |
| XM_017009179.2:c.8891A>G | XP_016864668.1:p.Glu2964Gly | |
| XM_017009180.1:c.9986A>G | XP_016864669.1:p.Glu3329Gly | |
| XM_017009181.1:c.9986A>G | XP_016864670.1:p.Glu3329Gly | |
| XM_017009182.1:c.9986A>G | XP_016864671.1:p.Glu3329Gly | |
| XM_017009185.1:c.5075A>G | XP_016864674.1:p.Glu1692Gly | |
| XM_017009186.1:c.4628A>G | XP_016864675.1:p.Glu1543Gly | |
| XM_017009188.1:c.3965A>G | XP_016864677.1:p.Glu1322Gly | |
| XM_024454388.1:c.8891A>G | XP_024310156.1:p.Glu2964Gly | |
| XM_024454389.1:c.8480A>G | XP_024310157.1:p.Glu2827Gly | |
| NM_001369.3:c.9878A>G MANE Select | NP_001360.1:p.Glu3293Gly |