Linked Data
ClinVar Variation Id:
258011
dbSNP Id:
rs149654950
ExAC:
5:13891219 A / T
gnomAD v2:
5-13891219-A-T
gnomAD v3:
5-13891110-A-T
gnomAD v4:
5-13891110-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13891110A>T , CM000667.2:g.13891110A>T | GRCh38 |
| NC_000005.9:g.13891219A>T , CM000667.1:g.13891219A>T | GRCh37 |
| NC_000005.8:g.13944219A>T | NCBI36 |
| NG_013081.1:g.58371T>A | |
| NG_013081.2:g.58371T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.2443T>A MANE Select | ENSP00000265104.4:p.Leu815Met | |
| ENST00000681290.1:c.2398T>A | ENSP00000505288.1:p.Leu800Met | |
| ENST00000265104.4:c.2443T>A | ENSP00000265104.4:p.Leu815Met | |
| NM_001369.2:c.2443T>A | NP_001360.1:p.Leu815Met | |
| XM_005248262.2:c.2398T>A | XP_005248319.1:p.Leu800Met | |
| XM_011513990.1:c.2443T>A | XP_011512292.1:p.Leu815Met | |
| XR_925598.1:n.2650T>A | ||
| XM_005248262.3:c.2551T>A | XP_005248319.2:p.Leu851Met | |
| XM_017009177.1:c.2551T>A | XP_016864666.1:p.Leu851Met | |
| XM_017009178.1:c.1456T>A | XP_016864667.1:p.Leu486Met | |
| XM_017009179.2:c.1456T>A | XP_016864668.1:p.Leu486Met | |
| XM_017009180.1:c.2551T>A | XP_016864669.1:p.Leu851Met | |
| XM_017009181.1:c.2551T>A | XP_016864670.1:p.Leu851Met | |
| XM_017009182.1:c.2551T>A | XP_016864671.1:p.Leu851Met | |
| XM_017009183.1:c.2551T>A | XP_016864672.1:p.Leu851Met | |
| XM_017009184.1:c.2551T>A | XP_016864673.1:p.Leu851Met | |
| XM_017009187.1:c.2551T>A | XP_016864676.1:p.Leu851Met | |
| XM_024454388.1:c.1456T>A | XP_024310156.1:p.Leu486Met | |
| XM_024454389.1:c.1045T>A | XP_024310157.1:p.Leu349Met | |
| XR_001742034.1:n.2568T>A | ||
| XR_001742035.1:n.2568T>A | ||
| NM_001369.3:c.2443T>A MANE Select | NP_001360.1:p.Leu815Met |