Linked Data
ClinVar Variation Id:
178757
dbSNP Id:
rs144748846
ExAC:
5:13914032 C / T
gnomAD v2:
5-13914032-C-T
gnomAD v3:
5-13913923-C-T
gnomAD v4:
5-13913923-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13913923C>T , CM000667.2:g.13913923C>T | GRCh38 |
| NC_000005.9:g.13914032C>T , CM000667.1:g.13914032C>T | GRCh37 |
| NC_000005.8:g.13967032C>T | NCBI36 |
| NG_013081.1:g.35558G>A | |
| NG_013081.2:g.35558G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000680213.2:n.1412G>A | ||
| ENST00000682376.1:n.5585G>A | ||
| ENST00000683011.1:n.1295G>A | ||
| ENST00000683967.1:n.3721G>A | ||
| ENST00000684013.1:n.2016G>A | ||
| ENST00000684099.1:n.2012G>A | ||
| ENST00000265104.5:c.1356G>A MANE Select | ENSP00000265104.4:p.Lys452= | |
| ENST00000680213.1:c.1116G>A | ENSP00000506622.1:p.Lys372= | |
| ENST00000681290.1:c.1311G>A | ENSP00000505288.1:p.Lys437= | |
| ENST00000265104.4:c.1356G>A | ENSP00000265104.4:p.Lys452= | |
| ENST00000508040.1:n.1764G>A | ||
| NM_001369.2:c.1356G>A | NP_001360.1:p.Lys452= | |
| XM_005248262.2:c.1311G>A | XP_005248319.1:p.Lys437= | |
| XM_011513990.1:c.1356G>A | XP_011512292.1:p.Lys452= | |
| XR_925598.1:n.1563G>A | ||
| XM_005248262.3:c.1464G>A | XP_005248319.2:p.Lys488= | |
| XM_017009177.1:c.1464G>A | XP_016864666.1:p.Lys488= | |
| XM_017009178.1:c.369G>A | XP_016864667.1:p.Lys123= | |
| XM_017009179.2:c.369G>A | XP_016864668.1:p.Lys123= | |
| XM_017009180.1:c.1464G>A | XP_016864669.1:p.Lys488= | |
| XM_017009181.1:c.1464G>A | XP_016864670.1:p.Lys488= | |
| XM_017009182.1:c.1464G>A | XP_016864671.1:p.Lys488= | |
| XM_017009183.1:c.1464G>A | XP_016864672.1:p.Lys488= | |
| XM_017009184.1:c.1464G>A | XP_016864673.1:p.Lys488= | |
| XM_017009187.1:c.1464G>A | XP_016864676.1:p.Lys488= | |
| XM_024454388.1:c.369G>A | XP_024310156.1:p.Lys123= | |
| XM_024454389.1:c.-43G>A | XP_024310157.1:n.-43G>A | |
| XR_001742034.1:n.1481G>A | ||
| XR_001742035.1:n.1481G>A | ||
| NM_001369.3:c.1356G>A MANE Select | NP_001360.1:p.Lys452= |