Linked Data
ClinVar Variation Id:
2779782
ClinVar RCV Id:
RCV003648076
dbSNP Id:
rs1256566430
gnomAD v2:
5-13769126-A-C
gnomAD v4:
5-13769017-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13769017A>C , CM000667.2:g.13769017A>C | GRCh38 |
| NC_000005.9:g.13769126A>C , CM000667.1:g.13769126A>C | GRCh37 |
| NC_000005.8:g.13822126A>C | NCBI36 |
| NG_013081.1:g.180464T>G | |
| NG_013081.2:g.180464T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.9840T>G MANE Select | ENSP00000265104.4:p.Ala3280= | |
| ENST00000681290.1:c.9795T>G | ENSP00000505288.1:p.Ala3265= | |
| ENST00000265104.4:c.9840T>G | ENSP00000265104.4:p.Ala3280= | |
| ENST00000504001.3:n.552T>G | ||
| NM_001369.2:c.9840T>G | NP_001360.1:p.Ala3280= | |
| XM_005248262.2:c.9795T>G | XP_005248319.1:p.Ala3265= | |
| XM_005248262.3:c.9948T>G | XP_005248319.2:p.Ala3316= | |
| XM_017009177.1:c.9948T>G | XP_016864666.1:p.Ala3316= | |
| XM_017009178.1:c.8853T>G | XP_016864667.1:p.Ala2951= | |
| XM_017009179.2:c.8853T>G | XP_016864668.1:p.Ala2951= | |
| XM_017009180.1:c.9948T>G | XP_016864669.1:p.Ala3316= | |
| XM_017009181.1:c.9948T>G | XP_016864670.1:p.Ala3316= | |
| XM_017009182.1:c.9948T>G | XP_016864671.1:p.Ala3316= | |
| XM_017009185.1:c.5037T>G | XP_016864674.1:p.Ala1679= | |
| XM_017009186.1:c.4590T>G | XP_016864675.1:p.Ala1530= | |
| XM_017009188.1:c.3927T>G | XP_016864677.1:p.Ala1309= | |
| XM_024454388.1:c.8853T>G | XP_024310156.1:p.Ala2951= | |
| XM_024454389.1:c.8442T>G | XP_024310157.1:p.Ala2814= | |
| NM_001369.3:c.9840T>G MANE Select | NP_001360.1:p.Ala3280= |