Linked Data
ClinVar Variation Id:
134018
dbSNP Id:
rs587778246
gnomAD v2:
7-55224495-G-C
gnomAD v4:
7-55156802-G-C
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.55156802G>C , CM000669.2:g.55156802G>C | GRCh38 |
| NC_000007.13:g.55224495G>C , CM000669.1:g.55224495G>C | GRCh37 |
| NC_000007.12:g.55191989G>C | NCBI36 |
| NG_007726.3:g.142771G>C , LRG_304:g.142771G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450046.2:c.1018G>C | ENSP00000413354.2:p.Asp340His | |
| ENST00000700144.1:n.1953G>C | ||
| ENST00000344576.7:c.1177G>C | ENSP00000345973.2:p.Asp393His | |
| ENST00000275493.7:c.1177G>C MANE Select | ENSP00000275493.2:p.Asp393His | |
| ENST00000275493.6:c.1177G>C | ENSP00000275493.2:p.Asp393His | |
| ENST00000342916.7:c.1177G>C | ENSP00000342376.3:p.Asp393His | |
| ENST00000344576.6:c.1177G>C | ENSP00000345973.2:p.Asp393His | |
| ENST00000420316.6:c.1177G>C | ENSP00000413843.2:p.Asp393His | |
| ENST00000442591.5:c.1177G>C | ENSP00000410031.1:p.Asp393His | |
| ENST00000454757.6:c.1042G>C | ENSP00000395243.3:p.Asp348His | |
| ENST00000455089.5:c.1042G>C | ENSP00000415559.1:p.Asp348His | |
| NM_005228.3:c.1177G>C , LRG_304t1:c.1177G>C | NP_005219.2:p.Asp393His | |
| NM_201282.1:c.1177G>C | NP_958439.1:p.Asp393His | |
| NM_201283.1:c.1177G>C | NP_958440.1:p.Asp393His | |
| NM_201284.1:c.1177G>C | NP_958441.1:p.Asp393His | |
| NM_001346897.1:c.1042G>C | NP_001333826.1:p.Asp348His | |
| NM_001346898.1:c.1177G>C | NP_001333827.1:p.Asp393His | |
| NM_001346899.1:c.1042G>C | NP_001333828.1:p.Asp348His | |
| NM_001346900.1:c.1018G>C | NP_001333829.1:p.Asp340His | |
| NM_001346941.1:c.376G>C | NP_001333870.1:p.Asp126His | |
| NM_005228.4:c.1177G>C | NP_005219.2:p.Asp393His | |
| NM_005228.5:c.1177G>C MANE Select | NP_005219.2:p.Asp393His | |
| NM_001346897.2:c.1042G>C | NP_001333826.1:p.Asp348His | |
| NM_001346898.2:c.1177G>C | NP_001333827.1:p.Asp393His | |
| NM_001346900.2:c.1018G>C | NP_001333829.1:p.Asp340His | |
| NM_001346941.2:c.376G>C | NP_001333870.1:p.Asp126His | |
| NM_201282.2:c.1177G>C | NP_958439.1:p.Asp393His | |
| NM_201284.2:c.1177G>C | NP_958441.1:p.Asp393His | |
| NM_001346899.2:c.1042G>C | NP_001333828.1:p.Asp348His | |
| NM_201283.2:c.1177G>C | NP_958440.1:p.Asp393His |