Linked Data
ClinVar Variation Id:
2472281
ClinVar RCV Id:
RCV003207777
dbSNP Id:
rs774298365
ExAC:
13:113772978 A / C
gnomAD v2:
13-113772978-A-C
gnomAD v4:
13-113118664-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113118664A>C , CM000675.2:g.113118664A>C | GRCh38 |
| NC_000013.10:g.113772978A>C , CM000675.1:g.113772978A>C | GRCh37 |
| NC_000013.9:g.112820979A>C | NCBI36 |
| NG_009258.1:g.866A>C , LRG_548:g.866A>C | |
| NG_009262.1:g.17874A>C , LRG_554:g.17874A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346342.8:c.991A>C MANE Select | ENSP00000329546.4:p.Thr331Pro | |
| ENST00000346342.7:c.991A>C | ENSP00000329546.3:p.Thr331Pro | |
| ENST00000375581.3:c.1057A>C | ENSP00000364731.3:p.Thr353Pro | |
| ENST00000541084.5:c.805A>C | ENSP00000442051.2:p.Thr269Pro | |
| NM_000131.4:c.1057A>C , LRG_554t1:c.1057A>C | NP_000122.1:p.Thr353Pro | |
| NM_001267554.1:c.805A>C | NP_001254483.1:p.Thr269Pro | |
| NM_019616.3:c.991A>C , LRG_554t2:c.991A>C | NP_062562.1:p.Thr331Pro | |
| NR_051961.1:n.1078A>C | ||
| XM_006719963.2:c.850A>C | XP_006720026.1:p.Thr284Pro | |
| XM_011537474.1:c.1099A>C | XP_011535776.1:p.Thr367Pro | |
| XM_011537475.1:c.913A>C | XP_011535777.1:p.Thr305Pro | |
| XM_011537476.1:c.751A>C | XP_011535778.1:p.Thr251Pro | |
| XM_011537477.1:c.1060A>C | XP_011535779.1:p.Thr354Pro | |
| XM_006719963.3:c.895A>C | XP_006720026.2:p.Thr299Pro | |
| XM_011537474.2:c.1144A>C | XP_011535776.2:p.Thr382Pro | |
| XM_011537475.2:c.958A>C | XP_011535777.2:p.Thr320Pro | |
| XM_011537476.2:c.751A>C | XP_011535778.1:p.Thr251Pro | |
| NM_019616.4:c.991A>C MANE Select | NP_062562.1:p.Thr331Pro | |
| NR_051961.2:n.1075A>C | ||
| NM_001267554.2:c.805A>C | NP_001254483.1:p.Thr269Pro |