Linked Data
ClinVar Variation Id:
1991578
ClinVar RCV Id:
RCV002790726
dbSNP Id:
rs760891127
ExAC:
8:42977278 A / C
gnomAD v2:
8-42977278-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.43122135A>C , CM000670.2:g.43122135A>C | GRCh38 |
| NC_000008.10:g.42977278A>C , CM000670.1:g.42977278A>C | GRCh37 |
| NC_000008.9:g.43096435A>C | NCBI36 |
| NG_033235.1:g.33630A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331373.10:c.311A>C MANE Select | ENSP00000331258.5:p.Lys104Thr | |
| ENST00000614426.2:c.*107A>C | ENSP00000478821.2:n.*107A>C | |
| ENST00000674646.1:c.29A>C | ENSP00000501703.1:p.Lys10Thr | |
| ENST00000674676.1:c.29A>C | ENSP00000502544.1:p.Lys10Thr | |
| ENST00000674782.1:c.*231A>C | ENSP00000501683.1:n.*231A>C | |
| ENST00000674937.1:c.269A>C | ENSP00000501823.1:p.Lys90Thr | |
| ENST00000675322.1:c.29A>C | ENSP00000502235.1:p.Lys10Thr | |
| ENST00000675675.1:c.29A>C | ENSP00000501793.1:p.Lys10Thr | |
| ENST00000676178.1:c.*96A>C | ENSP00000502007.1:n.*96A>C | |
| ENST00000676193.1:c.311A>C | ENSP00000502774.1:p.Lys104Thr | |
| ENST00000331373.9:c.311A>C | ENSP00000331258.5:p.Lys104Thr | |
| ENST00000518991.5:c.311A>C | ENSP00000429090.1:p.Lys104Thr | |
| ENST00000614426.1:c.311A>C | ENSP00000478821.1:p.Lys104Thr | |
| NM_001277971.1:c.311A>C | NP_001264900.1:p.Lys104Thr | |
| NM_032237.4:c.311A>C | NP_115613.1:p.Lys104Thr | |
| XM_011544668.1:c.311A>C | XP_011542970.1:p.Lys104Thr | |
| XM_011544669.1:c.311A>C | XP_011542971.1:p.Lys104Thr | |
| NM_032237.5:c.311A>C MANE Select | NP_115613.1:p.Lys104Thr | |
| NM_001277971.2:c.311A>C | NP_001264900.1:p.Lys104Thr |