Linked Data
ClinVar Variation Id:
14947
dbSNP Id:
rs137853246
ExAC:
12:121437161 G / C
gnomAD v2:
12-121437161-G-C
gnomAD v4:
12-120999358-G-C
PubMed:
PMID:12574234
ERepo:
CA124484/MONDO:0015967/017
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120999358G>C , CM000674.2:g.120999358G>C | GRCh38 |
| NC_000012.11:g.121437161G>C , CM000674.1:g.121437161G>C | GRCh37 |
| NC_000012.10:g.119921544G>C | NCBI36 |
| NG_011731.2:g.25613G>C , LRG_522:g.25613G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000560968.6:c.*339G>C | ENSP00000453965.2:n.*339G>C | |
| ENST00000257555.11:c.1592G>C MANE Select | ENSP00000257555.5:p.Ser531Thr | |
| ENST00000257555.10:c.1592G>C | ENSP00000257555.4:p.Ser531Thr | |
| ENST00000540108.1:c.*1032G>C | ENSP00000445445.1:n.*1032G>C | |
| ENST00000541395.5:c.1592G>C | ENSP00000443112.1:p.Ser531Thr | |
| ENST00000543427.5:c.1055G>C | ENSP00000439721.2:p.Ser352Thr | |
| ENST00000544413.2:c.1592G>C | ENSP00000438804.1:p.Ser531Thr | |
| ENST00000560968.5:c.1409G>C | ||
| ENST00000615446.4:c.380G>C | ENSP00000483994.1:p.Ser127Thr | |
| ENST00000617366.4:c.*1G>C | ENSP00000481967.1:n.*1G>C | |
| NM_000545.5:c.1592G>C , LRG_522t1:c.1592G>C | NP_000536.5:p.Ser531Thr | |
| NM_000545.6:c.1592G>C | NP_000536.5:p.Ser531Thr | |
| NM_001306179.1:c.1592G>C | NP_001293108.1:p.Ser531Thr | |
| XM_005253931.2:c.1592G>C | XP_005253988.1:p.Ser531Thr | |
| XM_024449168.1:c.1592G>C | XP_024304936.1:p.Ser531Thr | |
| NM_000545.8:c.1592G>C MANE Select | NP_000536.6:p.Ser531Thr | |
| NM_001306179.2:c.1592G>C | NP_001293108.2:p.Ser531Thr |