Linked Data
dbSNP Id:
rs2530223
ExAC:
5:141014494 T / C
gnomAD v2:
5-141014494-T-C
gnomAD v3:
5-141634927-T-C
gnomAD v4:
5-141634927-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.141634927T>C , CM000667.2:g.141634927T>C | GRCh38 |
| NC_000005.9:g.141014494T>C , CM000667.1:g.141014494T>C | GRCh37 |
| NC_000005.8:g.140994678T>C | NCBI36 |
| NG_029678.1:g.6930A>G | |
| NG_029678.2:g.6930A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000305264.8:c.165A>G MANE Select | ENSP00000302967.3:p.Gln55= | |
| ENST00000305264.7:c.165A>G | ENSP00000302967.3:p.Gln55= | |
| ENST00000469550.6:n.238A>G | ||
| ENST00000495485.1:n.200A>G | ||
| ENST00000519474.5:c.138+1621A>G | ENSP00000430782.1:n.138+1621A>G | |
| ENST00000523088.5:c.138+1621A>G | ENSP00000429099.1:n.138+1621A>G | |
| NM_003883.3:c.165A>G | NP_003874.2:p.Gln55= | |
| XM_011537697.1:c.-281+1621A>G | XP_011535999.1:n.-281+1621A>G | |
| XR_944336.1:n.225A>G | ||
| NM_001355039.1:c.165A>G | NP_001341968.1:p.Gln55= | |
| NM_001355040.1:c.-123+1621A>G | NP_001341969.1:n.-123+1621A>G | |
| NM_001355041.1:c.-281+1621A>G | NP_001341970.1:n.-281+1621A>G | |
| NR_149164.1:n.231A>G | ||
| NR_149165.1:n.204+1621A>G | ||
| NR_149166.1:n.204+1621A>G | ||
| NR_149167.1:n.231A>G | ||
| NR_149168.1:n.231A>G | ||
| NR_149169.1:n.231A>G | ||
| NM_003883.4:c.165A>G MANE Select | NP_003874.2:p.Gln55= | |
| NM_001355039.2:c.165A>G | NP_001341968.1:p.Gln55= | |
| NR_149167.2:n.224A>G | ||
| NM_001355040.2:c.-123+1621A>G | NP_001341969.1:n.-123+1621A>G | |
| NM_001355041.2:c.-281+1621A>G | NP_001341970.1:n.-281+1621A>G | |
| NR_149164.2:n.224A>G | ||
| NR_149165.2:n.197+1621A>G | ||
| NR_149166.2:n.197+1621A>G | ||
| NR_149168.2:n.224A>G | ||
| NR_149169.2:n.224A>G |