Linked Data
dbSNP Id:
rs200803030
ExAC:
5:13769082 T / C
gnomAD v2:
5-13769082-T-C
gnomAD v3:
5-13768973-T-C
gnomAD v4:
5-13768973-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13768973T>C , CM000667.2:g.13768973T>C | GRCh38 |
| NC_000005.9:g.13769082T>C , CM000667.1:g.13769082T>C | GRCh37 |
| NC_000005.8:g.13822082T>C | NCBI36 |
| NG_013081.1:g.180508A>G | |
| NG_013081.2:g.180508A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.9884A>G MANE Select | ENSP00000265104.4:p.Glu3295Gly | |
| ENST00000681290.1:c.9839A>G | ENSP00000505288.1:p.Glu3280Gly | |
| ENST00000265104.4:c.9884A>G | ENSP00000265104.4:p.Glu3295Gly | |
| ENST00000504001.3:n.596A>G | ||
| NM_001369.2:c.9884A>G | NP_001360.1:p.Glu3295Gly | |
| XM_005248262.2:c.9839A>G | XP_005248319.1:p.Glu3280Gly | |
| XM_005248262.3:c.9992A>G | XP_005248319.2:p.Glu3331Gly | |
| XM_017009177.1:c.9992A>G | XP_016864666.1:p.Glu3331Gly | |
| XM_017009178.1:c.8897A>G | XP_016864667.1:p.Glu2966Gly | |
| XM_017009179.2:c.8897A>G | XP_016864668.1:p.Glu2966Gly | |
| XM_017009180.1:c.9992A>G | XP_016864669.1:p.Glu3331Gly | |
| XM_017009181.1:c.9992A>G | XP_016864670.1:p.Glu3331Gly | |
| XM_017009182.1:c.9992A>G | XP_016864671.1:p.Glu3331Gly | |
| XM_017009185.1:c.5081A>G | XP_016864674.1:p.Glu1694Gly | |
| XM_017009186.1:c.4634A>G | XP_016864675.1:p.Glu1545Gly | |
| XM_017009188.1:c.3971A>G | XP_016864677.1:p.Glu1324Gly | |
| XM_024454388.1:c.8897A>G | XP_024310156.1:p.Glu2966Gly | |
| XM_024454389.1:c.8486A>G | XP_024310157.1:p.Glu2829Gly | |
| NM_001369.3:c.9884A>G MANE Select | NP_001360.1:p.Glu3295Gly |