Linked Data
ClinVar Variation Id:
369664
dbSNP Id:
rs138890576
ExAC:
5:13845040 A / G
gnomAD v2:
5-13845040-A-G
gnomAD v3:
5-13844931-A-G
gnomAD v4:
5-13844931-A-G
PubMed:
PMID:26938784
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13844931A>G , CM000667.2:g.13844931A>G | GRCh38 |
| NC_000005.9:g.13845040A>G , CM000667.1:g.13845040A>G | GRCh37 |
| NC_000005.8:g.13898040A>G | NCBI36 |
| NG_013081.1:g.104550T>C | |
| NG_013081.2:g.104550T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265104.5:c.5177T>C MANE Select | ENSP00000265104.4:p.Leu1726Pro | |
| ENST00000681290.1:c.5132T>C | ENSP00000505288.1:p.Leu1711Pro | |
| ENST00000265104.4:c.5177T>C | ENSP00000265104.4:p.Leu1726Pro | |
| NM_001369.2:c.5177T>C | NP_001360.1:p.Leu1726Pro | |
| XM_005248262.2:c.5132T>C | XP_005248319.1:p.Leu1711Pro | |
| XM_011513990.1:c.5177T>C | XP_011512292.1:p.Leu1726Pro | |
| XR_925598.1:n.5384T>C | ||
| XM_005248262.3:c.5285T>C | XP_005248319.2:p.Leu1762Pro | |
| XM_017009177.1:c.5285T>C | XP_016864666.1:p.Leu1762Pro | |
| XM_017009178.1:c.4190T>C | XP_016864667.1:p.Leu1397Pro | |
| XM_017009179.2:c.4190T>C | XP_016864668.1:p.Leu1397Pro | |
| XM_017009180.1:c.5285T>C | XP_016864669.1:p.Leu1762Pro | |
| XM_017009181.1:c.5285T>C | XP_016864670.1:p.Leu1762Pro | |
| XM_017009182.1:c.5285T>C | XP_016864671.1:p.Leu1762Pro | |
| XM_017009183.1:c.5285T>C | XP_016864672.1:p.Leu1762Pro | |
| XM_017009184.1:c.5285T>C | XP_016864673.1:p.Leu1762Pro | |
| XM_017009185.1:c.374T>C | XP_016864674.1:p.Leu125Pro | |
| XM_017009186.1:c.22-3027T>C | XP_016864675.1:n.22-3027T>C | |
| XM_017009187.1:c.5285T>C | XP_016864676.1:p.Leu1762Pro | |
| XM_024454388.1:c.4190T>C | XP_024310156.1:p.Leu1397Pro | |
| XM_024454389.1:c.3779T>C | XP_024310157.1:p.Leu1260Pro | |
| XR_001742034.1:n.5302T>C | ||
| XR_001742035.1:n.5302T>C | ||
| NM_001369.3:c.5177T>C MANE Select | NP_001360.1:p.Leu1726Pro |