Linked Data
ClinVar Variation Id:
45998
dbSNP Id:
rs201067092
ExAC:
10:73550147 T / A
gnomAD v2:
10-73550147-T-A
gnomAD v3:
10-71790390-T-A
gnomAD v4:
10-71790390-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71790390T>A , CM000672.2:g.71790390T>A | GRCh38 |
| NC_000010.10:g.73550147T>A , CM000672.1:g.73550147T>A | GRCh37 |
| NC_000010.9:g.73220153T>A | NCBI36 |
| NG_008835.1:g.398444T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.6026T>A MANE Select | ENSP00000224721.9:p.Leu2009His | |
| ENST00000224721.10:c.6041T>A | ENSP00000224721.8:p.Leu2014His | |
| ENST00000622827.4:c.6026T>A | ENSP00000483211.1:p.Leu2009His | |
| NM_022124.5:c.6026T>A | NP_071407.4:p.Leu2009His | |
| XM_006717940.2:c.6221T>A | XP_006718003.1:p.Leu2074His | |
| XM_006717942.2:c.6155T>A | XP_006718005.1:p.Leu2052His | |
| XM_011540039.1:c.6218T>A | XP_011538341.1:p.Leu2073His | |
| XM_011540040.1:c.6215T>A | XP_011538342.1:p.Leu2072His | |
| XM_011540041.1:c.6161T>A | XP_011538343.1:p.Leu2054His | |
| XM_011540042.1:c.6221T>A | XP_011538344.1:p.Leu2074His | |
| XM_011540043.1:c.6221T>A | XP_011538345.1:p.Leu2074His | |
| XM_011540044.1:c.6086T>A | XP_011538346.1:p.Leu2029His | |
| XM_011540045.1:c.6221T>A | XP_011538347.1:p.Leu2074His | |
| XM_011540046.1:c.5681T>A | XP_011538348.1:p.Leu1894His | |
| XM_011540047.1:c.5039T>A | XP_011538349.1:p.Leu1680His | |
| XM_011540048.1:c.6221T>A | XP_011538350.1:p.Leu2074His | |
| XM_011540049.1:c.6221T>A | XP_011538351.1:p.Leu2074His | |
| XM_011540050.1:c.6221T>A | XP_011538352.1:p.Leu2074His | |
| XM_011540051.1:c.6221T>A | XP_011538353.1:p.Leu2074His | |
| XM_011540052.1:c.2549T>A | XP_011538354.1:p.Leu850His | |
| XR_945796.1:n.6464T>A | ||
| NM_022124.6:c.6026T>A MANE Select | NP_071407.4:p.Leu2009His |