Linked Data
dbSNP Id:
rs756838417
ExAC:
11:18428856 G / C
gnomAD v2:
11-18428856-G-C
gnomAD v3:
11-18407309-G-C
gnomAD v4:
11-18407309-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.18407309G>C , CM000673.2:g.18407309G>C | GRCh38 |
| NC_000011.9:g.18428856G>C , CM000673.1:g.18428856G>C | GRCh37 |
| NC_000011.8:g.18385432G>C | NCBI36 |
| NG_008185.1:g.17875G>C | |
| NG_011816.1:g.4G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000422447.8:c.*28G>C MANE Select | ENSP00000395337.3:n.*28G>C | |
| ENST00000227157.8:c.*177G>C | ENSP00000227157.4:n.*177G>C | |
| ENST00000375710.7:n.1894G>C | ||
| ENST00000379412.9:c.*28G>C | ENSP00000368722.5:n.*28G>C | |
| ENST00000396222.6:c.758G>C | ENSP00000379524.2:p.Cys253Ser | |
| ENST00000422447.7:c.*28G>C | ENSP00000395337.3:n.*28G>C | |
| ENST00000430553.6:c.*28G>C | ENSP00000406172.2:n.*28G>C | |
| ENST00000538451.1:n.914G>C | ||
| ENST00000540430.5:c.*28G>C | ENSP00000445175.1:n.*28G>C | |
| ENST00000545215.5:c.*771G>C | ENSP00000442637.1:n.*771G>C | |
| NM_001135239.1:c.*28G>C | NP_001128711.1:n.*28G>C | |
| NM_001165414.1:c.*28G>C | NP_001158886.1:n.*28G>C | |
| NM_001165415.1:c.758G>C | NP_001158887.1:p.Cys253Ser | |
| NM_001165416.1:c.*177G>C | NP_001158888.1:n.*177G>C | |
| NM_005566.3:c.*28G>C | NP_005557.1:n.*28G>C | |
| NR_028500.1:n.1181G>C | ||
| NM_005566.4:c.*28G>C MANE Select | NP_005557.1:n.*28G>C | |
| NM_001165415.2:c.758G>C | NP_001158887.1:p.Cys253Ser | |
| NM_001135239.2:c.*28G>C | NP_001128711.1:n.*28G>C | |
| NM_001165414.2:c.*28G>C | NP_001158886.1:n.*28G>C | |
| NM_001165416.2:c.*177G>C | NP_001158888.1:n.*177G>C | |
| NR_028500.2:n.1007G>C |