Linked Data
dbSNP Id:
rs756309139
ExAC:
6:31583916 G / C
gnomAD v2:
6-31583916-G-C
gnomAD v3:
6-31616139-G-C
gnomAD v4:
6-31616139-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31616139G>C , CM000668.2:g.31616139G>C | GRCh38 |
| NC_000006.11:g.31583916G>C , CM000668.1:g.31583916G>C | GRCh37 |
| NC_000006.10:g.31691895G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376059.8:c.190G>C MANE Select | ENSP00000365227.3:p.Asp64His | |
| ENST00000337917.11:c.232G>C | ENSP00000338776.7:p.Asp78His | |
| ENST00000376049.4:c.28G>C | ENSP00000365217.4:p.Asp10His | |
| ENST00000376059.7:c.190G>C | ENSP00000365227.3:p.Asp64His | |
| ENST00000466820.1:n.607G>C | ||
| ENST00000497362.5:n.609G>C | ||
| NM_001623.3:c.190G>C | NP_001614.3:p.Asp64His | |
| NM_004847.3:c.28G>C | NP_004838.1:p.Asp10His | |
| NM_032955.1:c.28G>C | NP_116573.1:p.Asp10His | |
| XM_005248870.3:c.190G>C | XP_005248927.1:p.Asp64His | |
| XM_005248871.1:c.253G>C | XP_005248928.1:p.Asp85His | |
| NM_001318970.1:c.28G>C | NP_001305899.1:p.Asp10His | |
| NM_001623.4:c.190G>C | NP_001614.3:p.Asp64His | |
| NM_032955.2:c.28G>C | NP_116573.1:p.Asp10His | |
| XM_005248870.4:c.190G>C | XP_005248927.1:p.Asp64His | |
| XM_017010332.1:c.28G>C | XP_016865821.1:p.Asp10His | |
| NM_001623.5:c.190G>C MANE Select | NP_001614.3:p.Asp64His | |
| NM_001318970.2:c.28G>C | NP_001305899.1:p.Asp10His | |
| NM_032955.3:c.28G>C | NP_116573.1:p.Asp10His |