Linked Data
ClinVar Variation Id:
179699
dbSNP Id:
rs78853309
ExAC:
5:13810275 C / G
gnomAD v2:
5-13810275-C-G
gnomAD v3:
5-13810166-C-G
gnomAD v4:
5-13810166-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13810166C>G , CM000667.2:g.13810166C>G | GRCh38 |
| NC_000005.9:g.13810275C>G , CM000667.1:g.13810275C>G | GRCh37 |
| NC_000005.8:g.13863275C>G | NCBI36 |
| NG_013081.1:g.139315G>C | |
| NG_013081.2:g.139315G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.7502G>C MANE Select | ENSP00000265104.4:p.Arg2501Pro | |
| ENST00000681290.1:c.7457G>C | ENSP00000505288.1:p.Arg2486Pro | |
| ENST00000265104.4:c.7502G>C | ENSP00000265104.4:p.Arg2501Pro | |
| ENST00000512443.1:n.358G>C | ||
| NM_001369.2:c.7502G>C | NP_001360.1:p.Arg2501Pro | |
| XM_005248262.2:c.7457G>C | XP_005248319.1:p.Arg2486Pro | |
| XM_011513990.1:c.7502G>C | XP_011512292.1:p.Arg2501Pro | |
| XR_925598.1:n.7709G>C | ||
| XM_005248262.3:c.7610G>C | XP_005248319.2:p.Arg2537Pro | |
| XM_017009177.1:c.7610G>C | XP_016864666.1:p.Arg2537Pro | |
| XM_017009178.1:c.6515G>C | XP_016864667.1:p.Arg2172Pro | |
| XM_017009179.2:c.6515G>C | XP_016864668.1:p.Arg2172Pro | |
| XM_017009180.1:c.7610G>C | XP_016864669.1:p.Arg2537Pro | |
| XM_017009181.1:c.7610G>C | XP_016864670.1:p.Arg2537Pro | |
| XM_017009182.1:c.7610G>C | XP_016864671.1:p.Arg2537Pro | |
| XM_017009183.1:c.7610G>C | XP_016864672.1:p.Arg2537Pro | |
| XM_017009184.1:c.7610G>C | XP_016864673.1:p.Arg2537Pro | |
| XM_017009185.1:c.2699G>C | XP_016864674.1:p.Arg900Pro | |
| XM_017009186.1:c.2252G>C | XP_016864675.1:p.Arg751Pro | |
| XM_017009187.1:c.7610G>C | XP_016864676.1:p.Arg2537Pro | |
| XM_017009188.1:c.1589G>C | XP_016864677.1:p.Arg530Pro | |
| XM_024454388.1:c.6515G>C | XP_024310156.1:p.Arg2172Pro | |
| XM_024454389.1:c.6104G>C | XP_024310157.1:p.Arg2035Pro | |
| XR_001742034.1:n.7627G>C | ||
| XR_001742035.1:n.7627G>C | ||
| NM_001369.3:c.7502G>C MANE Select | NP_001360.1:p.Arg2501Pro |