Linked Data
ClinVar Variation Id:
300459
dbSNP Id:
rs200251748
ExAC:
10:73565689 G / C
gnomAD v2:
10-73565689-G-C
gnomAD v3:
10-71805932-G-C
gnomAD v4:
10-71805932-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71805932G>C , CM000672.2:g.71805932G>C | GRCh38 |
| NC_000010.10:g.73565689G>C , CM000672.1:g.73565689G>C | GRCh37 |
| NC_000010.9:g.73235695G>C | NCBI36 |
| NG_008835.1:g.413986G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.7999G>C MANE Select | ENSP00000224721.9:p.Asp2667His | |
| ENST00000642965.1:c.1932G>C | ENSP00000495222.1:n.1932G>C | |
| ENST00000647092.1:c.1596G>C | ENSP00000495176.1:n.1596G>C | |
| ENST00000224721.10:c.8014G>C | ENSP00000224721.8:p.Asp2672His | |
| ENST00000398788.4:c.1279G>C | ENSP00000381768.3:p.Asp427His | |
| ENST00000475158.1:n.1535G>C | ||
| ENST00000619887.4:c.1279G>C | ENSP00000478374.1:p.Asp427His | |
| ENST00000622827.4:c.7999G>C | ENSP00000483211.1:p.Asp2667His | |
| NM_001171933.1:c.1279G>C | NP_001165404.1:p.Asp427His | |
| NM_001171934.1:c.1279G>C | NP_001165405.1:p.Asp427His | |
| NM_022124.5:c.7999G>C | NP_071407.4:p.Asp2667His | |
| XM_006717940.2:c.8194G>C | XP_006718003.1:p.Asp2732His | |
| XM_006717942.2:c.8128G>C | XP_006718005.1:p.Asp2710His | |
| XM_011540039.1:c.8191G>C | XP_011538341.1:p.Asp2731His | |
| XM_011540040.1:c.8188G>C | XP_011538342.1:p.Asp2730His | |
| XM_011540041.1:c.8134G>C | XP_011538343.1:p.Asp2712His | |
| XM_011540042.1:c.8104G>C | XP_011538344.1:p.Asp2702His | |
| XM_011540043.1:c.8194G>C | XP_011538345.1:p.Asp2732His | |
| XM_011540044.1:c.8059G>C | XP_011538346.1:p.Asp2687His | |
| XM_011540045.1:c.8194G>C | XP_011538347.1:p.Asp2732His | |
| XM_011540046.1:c.7654G>C | XP_011538348.1:p.Asp2552His | |
| XM_011540047.1:c.7012G>C | XP_011538349.1:p.Asp2338His | |
| XM_011540052.1:c.4522G>C | XP_011538354.1:p.Asp1508His | |
| NM_022124.6:c.7999G>C MANE Select | NP_071407.4:p.Asp2667His |