Linked Data
dbSNP Id:
rs561270136
ExAC:
6:5404749 A / C
gnomAD v2:
6-5404749-A-C
gnomAD v4:
6-5404516-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.5404516A>C , CM000668.2:g.5404516A>C | GRCh38 |
| NC_000006.11:g.5404749A>C , CM000668.1:g.5404749A>C | GRCh37 |
| NC_000006.10:g.5349748A>C | NCBI36 |
| NG_033003.1:g.148166A>C | |
| NG_033003.2:g.148166A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000274680.9:c.613-26A>C MANE Select | ENSP00000274680.4:n.613-26A>C | |
| ENST00000648580.1:c.613-26A>C | ENSP00000497889.1:n.613-26A>C | |
| ENST00000274680.8:c.613-26A>C | ENSP00000274680.3:n.613-26A>C | |
| ENST00000324331.10:c.613-26A>C | ENSP00000316335.5:n.613-26A>C | |
| NM_006567.3:c.613-26A>C | NP_006558.1:n.613-26A>C | |
| XM_005248811.1:c.613-26A>C | XP_005248868.1:n.613-26A>C | |
| XM_005248812.2:c.613-26A>C | XP_005248869.1:n.613-26A>C | |
| XM_006714966.1:c.613-26A>C | XP_006715029.1:n.613-26A>C | |
| XM_011514247.1:c.613-26A>C | XP_011512549.1:n.613-26A>C | |
| XM_011514248.1:c.613-26A>C | XP_011512550.1:n.613-26A>C | |
| XM_011514249.1:c.613-26A>C | XP_011512551.1:n.613-26A>C | |
| XM_011514250.1:c.613-26A>C | XP_011512552.1:n.613-26A>C | |
| XM_011514251.1:c.613-26A>C | XP_011512553.1:n.613-26A>C | |
| XR_926026.1:n.944-26A>C | ||
| XR_926027.1:n.944-26A>C | ||
| XR_926028.1:n.944-26A>C | ||
| NM_001318872.1:c.613-26A>C | NP_001305801.1:n.613-26A>C | |
| NM_006567.4:c.613-26A>C | NP_006558.1:n.613-26A>C | |
| XM_005248812.3:c.613-26A>C | XP_005248869.1:n.613-26A>C | |
| XM_006714966.3:c.613-26A>C | XP_006715029.1:n.613-26A>C | |
| XM_011514247.3:c.613-26A>C | XP_011512549.1:n.613-26A>C | |
| XM_011514248.3:c.613-26A>C | XP_011512550.1:n.613-26A>C | |
| XM_011514249.2:c.613-26A>C | XP_011512551.1:n.613-26A>C | |
| XM_011514251.3:c.613-26A>C | XP_011512553.1:n.613-26A>C | |
| XM_017010186.1:c.613-26A>C | XP_016865675.1:n.613-26A>C | |
| XM_017010187.1:c.613-26A>C | XP_016865676.1:n.613-26A>C | |
| XR_926027.3:n.921-26A>C | ||
| XR_926028.2:n.921-26A>C | ||
| NM_001318872.2:c.613-26A>C | NP_001305801.1:n.613-26A>C | |
| NM_001374875.1:c.613-26A>C | NP_001361804.1:n.613-26A>C | |
| NM_001374876.1:c.613-26A>C | NP_001361805.1:n.613-26A>C | |
| NM_001374877.1:c.613-26A>C | NP_001361806.1:n.613-26A>C | |
| NM_001374878.1:c.613-26A>C | NP_001361807.1:n.613-26A>C | |
| NM_001374879.1:c.613-26A>C | NP_001361808.1:n.613-26A>C | |
| NM_001375257.1:c.613-26A>C | NP_001362186.1:n.613-26A>C | |
| NM_001375258.1:c.613-26A>C | NP_001362187.1:n.613-26A>C | |
| NM_001375259.1:c.-84-26A>C | NP_001362188.1:n.-84-26A>C | |
| NM_001375260.1:c.-84-26A>C | NP_001362189.1:n.-84-26A>C | |
| NM_006567.5:c.613-26A>C MANE Select | NP_006558.1:n.613-26A>C |