Linked Data
ClinVar Variation Id:
65600
ClinVar RCV Id:
RCV000055808
dbSNP Id:
rs397515527
PubMed:
PMID:24027798
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.125816185A>G , CM000672.2:g.125816185A>G | GRCh38 |
| NC_000010.10:g.127504754A>G , CM000672.1:g.127504754A>G | GRCh37 |
| NC_000010.9:g.127494744A>G | NCBI36 |
| NG_011557.1:g.12084T>C | |
| NG_011557.2:g.12084T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000713579.1:c.139T>C | ENSP00000518871.1:p.Ser47Pro | |
| ENST00000368797.10:c.139T>C MANE Select | ENSP00000357787.4:p.Ser47Pro | |
| ENST00000648119.1:c.139T>C | ENSP00000497494.1:p.Ser47Pro | |
| ENST00000648427.1:c.139T>C | ENSP00000497909.1:p.Ser47Pro | |
| ENST00000649275.1:c.68T>C | ||
| ENST00000649450.1:n.176T>C | ||
| ENST00000649536.1:c.139T>C | ENSP00000497817.1:p.Ser47Pro | |
| ENST00000650587.1:c.139T>C | ENSP00000497366.1:p.Ser47Pro | |
| ENST00000368774.1:c.139T>C | ENSP00000357763.1:p.Ser47Pro | |
| ENST00000368778.7:c.139T>C | ENSP00000357767.3:p.Ser47Pro | |
| ENST00000368786.5:c.139T>C | ENSP00000357775.1:p.Ser47Pro | |
| ENST00000368797.8:c.139T>C | ENSP00000357787.4:p.Ser47Pro | |
| ENST00000420761.5:c.63+252T>C | ENSP00000414833.1:n.63+252T>C | |
| NM_000375.2:c.139T>C | NP_000366.1:p.Ser47Pro | |
| XM_005270137.2:c.139T>C | XP_005270194.1:p.Ser47Pro | |
| XM_005270138.2:c.139T>C | XP_005270195.1:p.Ser47Pro | |
| XM_005270139.2:c.139T>C | XP_005270196.1:p.Ser47Pro | |
| XM_005270140.3:c.139T>C | XP_005270197.1:p.Ser47Pro | |
| XM_005270141.1:c.139T>C | XP_005270198.1:p.Ser47Pro | |
| XM_006717960.2:c.139T>C | XP_006718023.1:p.Ser47Pro | |
| XM_011540126.1:c.139T>C | XP_011538428.1:p.Ser47Pro | |
| XM_011540127.1:c.139T>C | XP_011538429.1:p.Ser47Pro | |
| XR_246103.2:n.247T>C | ||
| XR_945809.1:n.247T>C | ||
| XR_945810.1:n.247T>C | ||
| NM_000375.3:c.139T>C MANE Select | NP_000366.1:p.Ser47Pro | |
| NM_001324036.1:c.139T>C | NP_001310965.1:p.Ser47Pro | |
| NM_001324037.1:c.139T>C | NP_001310966.1:p.Ser47Pro | |
| NM_001324038.1:c.139T>C | NP_001310967.1:p.Ser47Pro | |
| NM_001324039.1:c.139T>C | NP_001310968.1:p.Ser47Pro | |
| NR_136675.1:n.329+252T>C | ||
| NR_136676.1:n.405T>C | ||
| NR_136677.1:n.405T>C | ||
| NR_136678.1:n.241-3897T>C | ||
| XM_005270140.5:c.139T>C | XP_005270197.1:p.Ser47Pro | |
| XM_011540127.2:c.139T>C | XP_011538429.1:p.Ser47Pro | |
| XM_017016611.2:c.139T>C | XP_016872100.2:p.Ser47Pro | |
| XM_017016612.2:c.139T>C | XP_016872101.1:p.Ser47Pro | |
| XM_024448154.1:c.139T>C | XP_024303922.1:p.Ser47Pro | |
| XM_024448155.1:c.139T>C | XP_024303923.1:p.Ser47Pro | |
| XR_001747196.2:n.262T>C | ||
| XR_001747197.2:n.262T>C | ||
| XR_002957009.1:n.262T>C | ||
| XR_002957010.1:n.203T>C | ||
| XR_246103.3:n.262T>C | ||
| XR_945810.2:n.262T>C | ||
| NM_001324036.2:c.139T>C | NP_001310965.1:p.Ser47Pro | |
| NM_001324037.2:c.139T>C | NP_001310966.1:p.Ser47Pro | |
| NM_001324038.2:c.139T>C | NP_001310967.1:p.Ser47Pro | |
| NR_136675.2:n.319+252T>C | ||
| NR_136676.2:n.395T>C | ||
| NR_136678.2:n.231-3897T>C | ||
| NM_001324039.2:c.139T>C | NP_001310968.1:p.Ser47Pro | |
| NR_136677.2:n.395T>C |