Linked Data
ClinVar Variation Id:
351054
dbSNP Id:
rs775185371
ExAC:
5:13792283 T / G
gnomAD v2:
5-13792283-T-G
gnomAD v3:
5-13792174-T-G
gnomAD v4:
5-13792174-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13792174T>G , CM000667.2:g.13792174T>G | GRCh38 |
| NC_000005.9:g.13792283T>G , CM000667.1:g.13792283T>G | GRCh37 |
| NC_000005.8:g.13845283T>G | NCBI36 |
| NG_013081.1:g.157307A>C | |
| NG_013081.2:g.157307A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.8268A>C MANE Select | ENSP00000265104.4:p.Ser2756= | |
| ENST00000681290.1:c.8223A>C | ENSP00000505288.1:p.Ser2741= | |
| ENST00000265104.4:c.8268A>C | ENSP00000265104.4:p.Ser2756= | |
| NM_001369.2:c.8268A>C | NP_001360.1:p.Ser2756= | |
| XM_005248262.2:c.8223A>C | XP_005248319.1:p.Ser2741= | |
| XM_011513990.1:c.8268A>C | XP_011512292.1:p.Ser2756= | |
| XR_925598.1:n.8475A>C | ||
| XM_005248262.3:c.8376A>C | XP_005248319.2:p.Ser2792= | |
| XM_017009177.1:c.8376A>C | XP_016864666.1:p.Ser2792= | |
| XM_017009178.1:c.7281A>C | XP_016864667.1:p.Ser2427= | |
| XM_017009179.2:c.7281A>C | XP_016864668.1:p.Ser2427= | |
| XM_017009180.1:c.8376A>C | XP_016864669.1:p.Ser2792= | |
| XM_017009181.1:c.8376A>C | XP_016864670.1:p.Ser2792= | |
| XM_017009182.1:c.8376A>C | XP_016864671.1:p.Ser2792= | |
| XM_017009183.1:c.8376A>C | XP_016864672.1:p.Ser2792= | |
| XM_017009184.1:c.8376A>C | XP_016864673.1:p.Ser2792= | |
| XM_017009185.1:c.3465A>C | XP_016864674.1:p.Ser1155= | |
| XM_017009186.1:c.3018A>C | XP_016864675.1:p.Ser1006= | |
| XM_017009188.1:c.2355A>C | XP_016864677.1:p.Ser785= | |
| XM_024454388.1:c.7281A>C | XP_024310156.1:p.Ser2427= | |
| XM_024454389.1:c.6870A>C | XP_024310157.1:p.Ser2290= | |
| XR_001742034.1:n.8393A>C | ||
| XR_001742035.1:n.8393A>C | ||
| NM_001369.3:c.8268A>C MANE Select | NP_001360.1:p.Ser2756= |