Linked Data
ClinVar Variation Id:
414356
dbSNP Id:
rs200249508
ExAC:
5:13882897 C / G
gnomAD v2:
5-13882897-C-G
gnomAD v3:
5-13882788-C-G
gnomAD v4:
5-13882788-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13882788C>G , CM000667.2:g.13882788C>G | GRCh38 |
| NC_000005.9:g.13882897C>G , CM000667.1:g.13882897C>G | GRCh37 |
| NC_000005.8:g.13935897C>G | NCBI36 |
| NG_013081.1:g.66693G>C | |
| NG_013081.2:g.66693G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.3202G>C MANE Select | ENSP00000265104.4:p.Ala1068Pro | |
| ENST00000681290.1:c.3157G>C | ENSP00000505288.1:p.Ala1053Pro | |
| ENST00000265104.4:c.3202G>C | ENSP00000265104.4:p.Ala1068Pro | |
| NM_001369.2:c.3202G>C | NP_001360.1:p.Ala1068Pro | |
| XM_005248262.2:c.3157G>C | XP_005248319.1:p.Ala1053Pro | |
| XM_011513990.1:c.3202G>C | XP_011512292.1:p.Ala1068Pro | |
| XR_925598.1:n.3409G>C | ||
| XM_005248262.3:c.3310G>C | XP_005248319.2:p.Ala1104Pro | |
| XM_017009177.1:c.3310G>C | XP_016864666.1:p.Ala1104Pro | |
| XM_017009178.1:c.2215G>C | XP_016864667.1:p.Ala739Pro | |
| XM_017009179.2:c.2215G>C | XP_016864668.1:p.Ala739Pro | |
| XM_017009180.1:c.3310G>C | XP_016864669.1:p.Ala1104Pro | |
| XM_017009181.1:c.3310G>C | XP_016864670.1:p.Ala1104Pro | |
| XM_017009182.1:c.3310G>C | XP_016864671.1:p.Ala1104Pro | |
| XM_017009183.1:c.3310G>C | XP_016864672.1:p.Ala1104Pro | |
| XM_017009184.1:c.3310G>C | XP_016864673.1:p.Ala1104Pro | |
| XM_017009187.1:c.3310G>C | XP_016864676.1:p.Ala1104Pro | |
| XM_024454388.1:c.2215G>C | XP_024310156.1:p.Ala739Pro | |
| XM_024454389.1:c.1804G>C | XP_024310157.1:p.Ala602Pro | |
| XR_001742034.1:n.3327G>C | ||
| XR_001742035.1:n.3327G>C | ||
| NM_001369.3:c.3202G>C MANE Select | NP_001360.1:p.Ala1068Pro |