Linked Data
ClinVar Variation Id:
12075
ClinVar RCV Id:
RCV000012856
dbSNP Id:
rs387906507
gnomAD v2:
13-113760193-T-C
gnomAD v4:
13-113105879-T-C
PubMed:
PMID:9576180
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113105879T>C , CM000675.2:g.113105879T>C | GRCh38 |
| NC_000013.10:g.113760193T>C , CM000675.1:g.113760193T>C | GRCh37 |
| NC_000013.9:g.112808194T>C | NCBI36 |
| NG_009262.1:g.5089T>C , LRG_554:g.5089T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346342.8:c.38T>C MANE Select | ENSP00000329546.4:p.Leu13Pro | |
| ENST00000346342.7:c.38T>C | ENSP00000329546.3:p.Leu13Pro | |
| ENST00000375581.3:c.38T>C | ENSP00000364731.3:p.Leu13Pro | |
| ENST00000444337.1:c.38T>C | ENSP00000387669.1:p.Leu13Pro | |
| ENST00000541084.5:c.38T>C | ENSP00000442051.2:p.Leu13Pro | |
| NM_000131.4:c.38T>C , LRG_554t1:c.38T>C | NP_000122.1:p.Leu13Pro | |
| NM_001267554.1:c.38T>C | NP_001254483.1:p.Leu13Pro | |
| NM_019616.3:c.38T>C , LRG_554t2:c.38T>C | NP_062562.1:p.Leu13Pro | |
| NR_051961.1:n.92T>C | ||
| XM_006719963.2:c.38T>C | XP_006720026.1:p.Leu13Pro | |
| XM_011537474.1:c.38T>C | XP_011535776.1:p.Leu13Pro | |
| XM_011537475.1:c.38T>C | XP_011535777.1:p.Leu13Pro | |
| XM_011537477.1:c.38T>C | XP_011535779.1:p.Leu13Pro | |
| XM_006719963.3:c.83T>C | XP_006720026.2:p.Leu28Pro | |
| XM_011537474.2:c.83T>C | XP_011535776.2:p.Leu28Pro | |
| XM_011537475.2:c.83T>C | XP_011535777.2:p.Leu28Pro | |
| NM_019616.4:c.38T>C MANE Select | NP_062562.1:p.Leu13Pro | |
| NR_051961.2:n.89T>C | ||
| NM_001267554.2:c.38T>C | NP_001254483.1:p.Leu13Pro |