Linked Data
ClinVar Variation Id:
12071
ClinVar RCV Id:
RCV000012852
dbSNP Id:
rs121964930
ExAC:
13:113773177 C / T
gnomAD v2:
13-113773177-C-T
gnomAD v3:
13-113118863-C-T
gnomAD v4:
13-113118863-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113118863C>T , CM000675.2:g.113118863C>T | GRCh38 |
| NC_000013.10:g.113773177C>T , CM000675.1:g.113773177C>T | GRCh37 |
| NC_000013.9:g.112821178C>T | NCBI36 |
| NG_009258.1:g.1065C>T , LRG_548:g.1065C>T | |
| NG_009262.1:g.18073C>T , LRG_554:g.18073C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000346342.8:c.1190C>T MANE Select | ENSP00000329546.4:p.Thr397Met | |
| ENST00000346342.7:c.1190C>T | ENSP00000329546.3:p.Thr397Met | |
| ENST00000375581.3:c.1256C>T | ENSP00000364731.3:p.Thr419Met | |
| ENST00000541084.5:c.1004C>T | ENSP00000442051.2:p.Thr335Met | |
| NM_000131.4:c.1256C>T , LRG_554t1:c.1256C>T | NP_000122.1:p.Thr419Met | |
| NM_001267554.1:c.1004C>T | NP_001254483.1:p.Thr335Met | |
| NM_019616.3:c.1190C>T , LRG_554t2:c.1190C>T | NP_062562.1:p.Thr397Met | |
| NR_051961.1:n.1277C>T | ||
| XM_006719963.2:c.1049C>T | XP_006720026.1:p.Thr350Met | |
| XM_011537474.1:c.1298C>T | XP_011535776.1:p.Thr433Met | |
| XM_011537475.1:c.1112C>T | XP_011535777.1:p.Thr371Met | |
| XM_011537476.1:c.950C>T | XP_011535778.1:p.Thr317Met | |
| XM_011537477.1:c.1259C>T | XP_011535779.1:p.Thr420Met | |
| XM_006719963.3:c.1094C>T | XP_006720026.2:p.Thr365Met | |
| XM_011537474.2:c.1343C>T | XP_011535776.2:p.Thr448Met | |
| XM_011537475.2:c.1157C>T | XP_011535777.2:p.Thr386Met | |
| XM_011537476.2:c.950C>T | XP_011535778.1:p.Thr317Met | |
| NM_019616.4:c.1190C>T MANE Select | NP_062562.1:p.Thr397Met | |
| NR_051961.2:n.1274C>T | ||
| NM_001267554.2:c.1004C>T | NP_001254483.1:p.Thr335Met |