Linked Data
ClinVar Variation Id:
46666
ClinVar RCV Id:
RCV000039936
RCV000247348
RCV000461955
RCV001132026
RCV001132027
RCV001132028
RCV001129325
RCV001129326
RCV001572703
RCV003486572
dbSNP Id:
rs28626194
ExAC:
2:179591945 A / T
gnomAD v2:
2-179591945-A-T
gnomAD v3:
2-178727218-A-T
gnomAD v4:
2-178727218-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178727218A>T , CM000664.2:g.178727218A>T | GRCh38 |
| NC_000002.11:g.179591945A>T , CM000664.1:g.179591945A>T | GRCh37 |
| NC_000002.10:g.179300190A>T | NCBI36 |
| NG_011618.3:g.108585T>A , LRG_391:g.108585T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.16415T>A | ENSP00000343764.6:p.Met5472Lys | |
| ENST00000342175.11:c.13858+10864T>A | ENSP00000340554.6:n.13858+10864T>A | |
| ENST00000359218.10:c.13657+10864T>A | ENSP00000352154.5:n.13657+10864T>A | |
| ENST00000342175.10:c.13858+10864T>A | ENSP00000340554.6:n.13858+10864T>A | |
| ENST00000342992.10:c.16415T>A | ENSP00000343764.6:p.Met5472Lys | |
| ENST00000359218.9:c.13657+10864T>A | ENSP00000352154.5:n.13657+10864T>A | |
| ENST00000460472.6:c.13282+10864T>A | ENSP00000434586.1:n.13282+10864T>A | |
| ENST00000589042.5:c.20147T>A MANE Select | ENSP00000467141.1:p.Met6716Lys | |
| ENST00000591111.5:c.19196T>A | ENSP00000465570.1:p.Met6399Lys | |
| ENST00000615779.4:c.19196T>A | ENSP00000483597.1:p.Met6399Lys | |
| NM_001256850.1:c.19196T>A | NP_001243779.1:p.Met6399Lys | |
| NM_001267550.2:c.20147T>A MANE Select | NP_001254479.2:p.Met6716Lys | |
| NM_003319.4:c.13282+10864T>A | NP_003310.4:n.13282+10864T>A | |
| NM_133378.4:c.16415T>A | NP_596869.4:p.Met5472Lys | |
| NM_133432.3:c.13657+10864T>A | NP_597676.3:n.13657+10864T>A | |
| NM_133437.4:c.13858+10864T>A | NP_597681.4:n.13858+10864T>A | |
| XM_011511729.1:c.19244T>A | XP_011510031.1:p.Met6415Lys | |
| XM_011511730.1:c.13468+10864T>A | XP_011510032.1:n.13468+10864T>A | |
| XM_011511731.1:c.13327+10864T>A | XP_011510033.1:n.13327+10864T>A | |
| XM_017004819.1:c.19199T>A | XP_016860308.1:p.Met6400Lys | |
| XM_017004820.1:c.16418T>A | XP_016860309.1:p.Met5473Lys | |
| XM_017004821.1:c.16415T>A | XP_016860310.1:p.Met5472Lys | |
| XM_017004822.1:c.19199T>A | XP_016860311.1:p.Met6400Lys | |
| XM_017004823.1:c.13423+10864T>A | XP_016860312.1:n.13423+10864T>A | |
| XM_024453094.1:c.19199T>A | XP_024308862.1:p.Met6400Lys | |
| XM_024453095.1:c.19199T>A | XP_024308863.1:p.Met6400Lys | |
| XM_024453096.1:c.19199T>A | XP_024308864.1:p.Met6400Lys | |
| XM_024453097.1:c.19199T>A | XP_024308865.1:p.Met6400Lys | |
| XM_024453098.1:c.19199T>A | XP_024308866.1:p.Met6400Lys | |
| XM_024453099.1:c.13423+10864T>A | XP_024308867.1:n.13423+10864T>A |