Linked Data
dbSNP Id:
rs370774570
ExAC:
12:7945747 A / C
gnomAD v2:
12-7945747-A-C
gnomAD v3:
12-7793151-A-C
gnomAD v4:
12-7793151-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.7793151A>C , CM000674.2:g.7793151A>C | GRCh38 |
| NC_000012.11:g.7945747A>C , CM000674.1:g.7945747A>C | GRCh37 |
| NC_000012.10:g.7837014A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229307.9:c.353A>C MANE Select | ENSP00000229307.4:p.Lys118Thr | |
| ENST00000229307.8:c.353A>C | ENSP00000229307.4:p.Lys118Thr | |
| ENST00000526286.1:c.353A>C | ENSP00000435288.1:p.Lys118Thr | |
| ENST00000526434.2:n.497A>C | ||
| ENST00000541267.5:c.281A>C | ENSP00000444434.1:p.Lys94Thr | |
| NM_001297698.1:c.353A>C | NP_001284627.1:p.Lys118Thr | |
| NM_024865.3:c.353A>C | NP_079141.2:p.Lys118Thr | |
| XM_011520850.1:c.353A>C | XP_011519152.1:p.Lys118Thr | |
| XM_011520851.1:c.281A>C | XP_011519153.1:p.Lys94Thr | |
| XM_011520852.1:c.-20A>C | XP_011519154.1:n.-20A>C | |
| NM_024865.4:c.353A>C MANE Select | NP_079141.2:p.Lys118Thr | |
| NM_001297698.2:c.353A>C | NP_001284627.1:p.Lys118Thr |