Linked Data
ClinVar Variation Id:
2751
ClinVar RCV Id:
RCV000002876
dbSNP Id:
rs267606679
PubMed:
PMID:18611979
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61957454T>C , CM000673.2:g.61957454T>C | GRCh38 |
| NC_000011.9:g.61724926T>C , CM000673.1:g.61724926T>C | GRCh37 |
| NC_000011.8:g.61481502T>C | NCBI36 |
| NG_009033.1:g.12571T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378043.9:c.704T>C MANE Select | ENSP00000367282.4:p.Val235Ala | |
| ENST00000378043.8:c.704T>C | ENSP00000367282.4:p.Val235Ala | |
| ENST00000449131.6:c.524T>C | ENSP00000399709.2:p.Val175Ala | |
| ENST00000524877.5:n.1136T>C | ||
| ENST00000524926.5:c.704T>C | ENSP00000432681.1:p.Val235Ala | |
| ENST00000526988.1:c.386T>C | ENSP00000433195.1:p.Val129Ala | |
| ENST00000529265.5:n.627T>C | ||
| ENST00000534553.5:c.163+1503T>C | ENSP00000431189.1:n.163+1503T>C | |
| NM_001139443.1:c.524T>C | NP_001132915.1:p.Val175Ala | |
| NM_001300786.1:c.524T>C | NP_001287715.1:p.Val175Ala | |
| NM_001300787.1:c.524T>C | NP_001287716.1:p.Val175Ala | |
| NM_004183.3:c.704T>C | NP_004174.1:p.Val235Ala | |
| XM_005274210.2:c.704T>C | XP_005274267.1:p.Val235Ala | |
| XM_005274215.2:c.386T>C | XP_005274272.1:p.Val129Ala | |
| XM_005274216.2:c.524T>C | XP_005274273.1:p.Val175Ala | |
| XM_005274218.3:c.386T>C | XP_005274275.1:p.Val129Ala | |
| XM_005274219.2:c.704T>C | XP_005274276.1:p.Val235Ala | |
| XM_005274221.2:c.704T>C | XP_005274278.1:p.Val235Ala | |
| XM_011545229.1:c.704T>C | XP_011543531.1:p.Val235Ala | |
| XM_011545230.1:c.611T>C | XP_011543532.1:p.Val204Ala | |
| XM_011545231.1:c.386T>C | XP_011543533.1:p.Val129Ala | |
| XM_011545232.1:c.704T>C | XP_011543534.1:p.Val235Ala | |
| NM_001363591.1:c.386T>C | NP_001350520.1:p.Val129Ala | |
| NM_001363592.1:c.704T>C | NP_001350521.1:p.Val235Ala | |
| NM_001363593.1:c.-472T>C | NP_001350522.1:n.-472T>C | |
| NR_134580.1:n.1284T>C | ||
| XM_005274210.4:c.704T>C | XP_005274267.1:p.Val235Ala | |
| XM_005274215.4:c.386T>C | XP_005274272.1:p.Val129Ala | |
| XM_005274216.4:c.524T>C | XP_005274273.1:p.Val175Ala | |
| XM_005274219.4:c.704T>C | XP_005274276.1:p.Val235Ala | |
| XM_005274221.4:c.704T>C | XP_005274278.1:p.Val235Ala | |
| XM_011545229.3:c.704T>C | XP_011543531.1:p.Val235Ala | |
| XM_011545230.3:c.611T>C | XP_011543532.1:p.Val204Ala | |
| XM_017018230.2:c.386T>C | XP_016873719.1:p.Val129Ala | |
| XR_001747952.2:n.1202T>C | ||
| XR_001747953.2:n.1394T>C | ||
| XR_001747954.2:n.1394T>C | ||
| XR_001748245.1:n.1275A>G | ||
| XR_002957249.1:n.506-222A>G | ||
| NM_004183.4:c.704T>C MANE Select | NP_004174.1:p.Val235Ala | |
| NM_001139443.2:c.524T>C | NP_001132915.1:p.Val175Ala | |
| NM_001300786.2:c.524T>C | NP_001287715.1:p.Val175Ala | |
| NM_001300787.2:c.524T>C | NP_001287716.1:p.Val175Ala | |
| NM_001363591.2:c.386T>C | NP_001350520.1:p.Val129Ala | |
| NM_001363593.2:c.-472T>C | NP_001350522.1:n.-472T>C | |
| NR_134580.2:n.817T>C |