Linked Data
dbSNP Id:
rs748557981
ExAC:
4:146560442 T / C
gnomAD v2:
4-146560442-T-C
gnomAD v3:
4-145639290-T-C
gnomAD v4:
4-145639290-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.145639290T>C , CM000666.2:g.145639290T>C | GRCh38 |
| NC_000004.11:g.146560442T>C , CM000666.1:g.146560442T>C | GRCh37 |
| NC_000004.10:g.146779892T>C | NCBI36 |
| NG_007536.1:g.24993T>C | |
| NG_007536.2:g.45249T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000541599.5:c.151T>C | ENSP00000442284.3:p.Cys51Arg | |
| ENST00000647947.1:c.151T>C | ENSP00000496781.1:p.Cys51Arg | |
| ENST00000648388.1:c.151T>C | ENSP00000497046.1:p.Cys51Arg | |
| ENST00000649156.2:c.151T>C MANE Select | ENSP00000497008.1:p.Cys51Arg | |
| ENST00000649173.1:c.151T>C | ENSP00000497871.1:p.Cys51Arg | |
| ENST00000649704.1:c.151T>C | ENSP00000497680.1:p.Cys51Arg | |
| ENST00000679563.1:c.151T>C | ENSP00000506503.1:p.Cys51Arg | |
| ENST00000679930.1:c.151T>C | ENSP00000506293.1:p.Cys51Arg | |
| ENST00000281317.9:c.151T>C | ENSP00000281317.5:p.Cys51Arg | |
| ENST00000506919.1:n.639T>C | ||
| ENST00000511969.4:c.151T>C | ENSP00000427422.1:p.Cys51Arg | |
| ENST00000541599.4:c.151T>C | ENSP00000442284.2:p.Cys51Arg | |
| NM_172250.2:c.151T>C | NP_758454.1:p.Cys51Arg | |
| XM_011531684.1:c.151T>C | XP_011529986.1:p.Cys51Arg | |
| XM_011531685.1:c.151T>C | XP_011529987.1:p.Cys51Arg | |
| NM_172250.3:c.151T>C MANE Select | NP_758454.1:p.Cys51Arg | |
| XM_011531684.3:c.151T>C | XP_011529986.1:p.Cys51Arg | |
| XM_011531685.2:c.151T>C | XP_011529987.1:p.Cys51Arg | |
| XM_011531686.2:c.-633T>C | XP_011529988.1:n.-633T>C | |
| NM_001375644.1:c.151T>C | NP_001362573.1:p.Cys51Arg |