Linked Data
dbSNP Id:
rs371109536
ExAC:
5:13769221 C / T
gnomAD v2:
5-13769221-C-T
gnomAD v4:
5-13769112-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13769112C>T , CM000667.2:g.13769112C>T | GRCh38 |
| NC_000005.9:g.13769221C>T , CM000667.1:g.13769221C>T | GRCh37 |
| NC_000005.8:g.13822221C>T | NCBI36 |
| NG_013081.1:g.180369G>A | |
| NG_013081.2:g.180369G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.9745G>A MANE Select | ENSP00000265104.4:p.Ala3249Thr | |
| ENST00000681290.1:c.9700G>A | ENSP00000505288.1:p.Ala3234Thr | |
| ENST00000265104.4:c.9745G>A | ENSP00000265104.4:p.Ala3249Thr | |
| ENST00000504001.3:n.457G>A | ||
| NM_001369.2:c.9745G>A | NP_001360.1:p.Ala3249Thr | |
| XM_005248262.2:c.9700G>A | XP_005248319.1:p.Ala3234Thr | |
| XM_005248262.3:c.9853G>A | XP_005248319.2:p.Ala3285Thr | |
| XM_017009177.1:c.9853G>A | XP_016864666.1:p.Ala3285Thr | |
| XM_017009178.1:c.8758G>A | XP_016864667.1:p.Ala2920Thr | |
| XM_017009179.2:c.8758G>A | XP_016864668.1:p.Ala2920Thr | |
| XM_017009180.1:c.9853G>A | XP_016864669.1:p.Ala3285Thr | |
| XM_017009181.1:c.9853G>A | XP_016864670.1:p.Ala3285Thr | |
| XM_017009182.1:c.9853G>A | XP_016864671.1:p.Ala3285Thr | |
| XM_017009185.1:c.4942G>A | XP_016864674.1:p.Ala1648Thr | |
| XM_017009186.1:c.4495G>A | XP_016864675.1:p.Ala1499Thr | |
| XM_017009188.1:c.3832G>A | XP_016864677.1:p.Ala1278Thr | |
| XM_024454388.1:c.8758G>A | XP_024310156.1:p.Ala2920Thr | |
| XM_024454389.1:c.8347G>A | XP_024310157.1:p.Ala2783Thr | |
| NM_001369.3:c.9745G>A MANE Select | NP_001360.1:p.Ala3249Thr |