Linked Data
ClinVar Variation Id:
1011100
ClinVar RCV Id:
RCV001308856
dbSNP Id:
rs149681419
ExAC:
5:13770952 T / C
gnomAD v2:
5-13770952-T-C
gnomAD v4:
5-13770843-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13770843T>C , CM000667.2:g.13770843T>C | GRCh38 |
| NC_000005.9:g.13770952T>C , CM000667.1:g.13770952T>C | GRCh37 |
| NC_000005.8:g.13823952T>C | NCBI36 |
| NG_013081.1:g.178638A>G | |
| NG_013081.2:g.178638A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.9511A>G MANE Select | ENSP00000265104.4:p.Thr3171Ala | |
| ENST00000681290.1:c.9466A>G | ENSP00000505288.1:p.Thr3156Ala | |
| ENST00000265104.4:c.9511A>G | ENSP00000265104.4:p.Thr3171Ala | |
| ENST00000504001.3:n.223A>G | ||
| NM_001369.2:c.9511A>G | NP_001360.1:p.Thr3171Ala | |
| XM_005248262.2:c.9466A>G | XP_005248319.1:p.Thr3156Ala | |
| XM_005248262.3:c.9619A>G | XP_005248319.2:p.Thr3207Ala | |
| XM_017009177.1:c.9619A>G | XP_016864666.1:p.Thr3207Ala | |
| XM_017009178.1:c.8524A>G | XP_016864667.1:p.Thr2842Ala | |
| XM_017009179.2:c.8524A>G | XP_016864668.1:p.Thr2842Ala | |
| XM_017009180.1:c.9619A>G | XP_016864669.1:p.Thr3207Ala | |
| XM_017009181.1:c.9619A>G | XP_016864670.1:p.Thr3207Ala | |
| XM_017009182.1:c.9619A>G | XP_016864671.1:p.Thr3207Ala | |
| XM_017009183.1:c.9619A>G | XP_016864672.1:p.Thr3207Ala | |
| XM_017009185.1:c.4708A>G | XP_016864674.1:p.Thr1570Ala | |
| XM_017009186.1:c.4261A>G | XP_016864675.1:p.Thr1421Ala | |
| XM_017009188.1:c.3598A>G | XP_016864677.1:p.Thr1200Ala | |
| XM_024454388.1:c.8524A>G | XP_024310156.1:p.Thr2842Ala | |
| XM_024454389.1:c.8113A>G | XP_024310157.1:p.Thr2705Ala | |
| NM_001369.3:c.9511A>G MANE Select | NP_001360.1:p.Thr3171Ala |