Linked Data
dbSNP Id:
rs763006656
ExAC:
3:182756864 C / G
gnomAD v2:
3-182756864-C-G
gnomAD v4:
3-183039076-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.183039076C>G , CM000665.2:g.183039076C>G | GRCh38 |
| NC_000003.11:g.182756864C>G , CM000665.1:g.182756864C>G | GRCh37 |
| NC_000003.10:g.184239558C>G | NCBI36 |
| NG_008100.1:g.65502G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265594.9:c.1327G>C MANE Select | ENSP00000265594.4:p.Asp443His | |
| ENST00000265594.8:c.1327G>C | ENSP00000265594.4:p.Asp443His | |
| ENST00000476176.5:c.1186G>C | ENSP00000420433.1:p.Asp396His | |
| ENST00000492597.5:c.1000G>C | ENSP00000419898.1:p.Asp334His | |
| ENST00000495767.5:c.*908G>C | ENSP00000419658.1:n.*908G>C | |
| ENST00000497830.5:c.*924G>C | ENSP00000420088.1:n.*924G>C | |
| ENST00000497959.5:c.1213G>C | ENSP00000420648.1:p.Asp405His | |
| ENST00000539926.5:c.877G>C | ENSP00000441253.2:p.Asp293His | |
| ENST00000610757.4:c.877G>C | ENSP00000480435.1:p.Asp293His | |
| ENST00000629669.2:c.1213G>C | ENSP00000486824.1:p.Asp405His | |
| NM_001293273.1:c.976G>C | NP_001280202.1:p.Asp326His | |
| NM_020166.4:c.1327G>C | NP_064551.3:p.Asp443His | |
| NR_120639.1:n.1241G>C | ||
| NR_120640.1:n.1994G>C | ||
| XM_006713702.1:c.1000G>C | XP_006713765.1:p.Asp334His | |
| XM_011512992.1:c.1213G>C | XP_011511294.1:p.Asp405His | |
| XM_011512993.1:c.1327G>C | XP_011511295.1:p.Asp443His | |
| XR_241502.2:n.1474G>C | ||
| XR_924159.1:n.1474G>C | ||
| NM_001363880.1:c.1000G>C | NP_001350809.1:p.Asp334His | |
| XM_011512992.2:c.1213G>C | XP_011511294.1:p.Asp405His | |
| XR_001740207.2:n.1450G>C | ||
| XR_001740208.2:n.1450G>C | ||
| XR_001740209.2:n.1420G>C | ||
| XR_001740210.1:n.1280G>C | ||
| XR_002959553.1:n.1450G>C | ||
| XR_002959554.1:n.1450G>C | ||
| XR_241502.3:n.1420G>C | ||
| NM_020166.5:c.1327G>C MANE Select | NP_064551.3:p.Asp443His | |
| NM_001293273.2:c.976G>C | NP_001280202.1:p.Asp326His | |
| NR_120639.2:n.1150G>C | ||
| NR_120640.2:n.1994G>C |