Linked Data
ClinVar Variation Id:
9045
ClinVar RCV Id:
RCV000009612
dbSNP Id:
rs137852678
PubMed:
PMID:12590259
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.190978930A>G , CM000664.2:g.190978930A>G | GRCh38 |
| NC_000002.11:g.191843656A>G , CM000664.1:g.191843656A>G | GRCh37 |
| NC_000002.10:g.191551901A>G | NCBI36 |
| NG_008294.1:g.40321T>C , LRG_111:g.40321T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698141.1:c.1799T>C | ENSP00000513582.1:p.Leu600Pro | |
| ENST00000698142.1:c.1739T>C | ENSP00000513583.1:p.Leu580Pro | |
| ENST00000698143.1:n.3672T>C | ||
| ENST00000698144.1:c.*1125T>C | ENSP00000513584.1:n.*1125T>C | |
| ENST00000698145.1:c.634-9181T>C | ENSP00000513585.1:n.634-9181T>C | |
| ENST00000698146.1:c.*1549T>C | ENSP00000513586.1:n.*1549T>C | |
| ENST00000698147.1:n.3319T>C | ||
| ENST00000698148.1:n.3649T>C | ||
| ENST00000698149.1:c.1799T>C | ENSP00000513587.1:p.Leu600Pro | |
| ENST00000361099.8:c.1799T>C MANE Select | ENSP00000354394.4:p.Leu600Pro | |
| ENST00000415035.2:c.1799T>C | ENSP00000388240.2:p.Leu600Pro | |
| ENST00000423282.2:c.129-1905T>C | ENSP00000388772.2:n.129-1905T>C | |
| ENST00000452281.6:c.*1125T>C | ENSP00000394512.1:n.*1125T>C | |
| ENST00000540176.6:c.1799T>C | ENSP00000438703.2:p.Leu600Pro | |
| ENST00000673734.1:c.*966T>C | ENSP00000501040.1:n.*966T>C | |
| ENST00000673762.1:n.298T>C | ||
| ENST00000673777.1:c.1793T>C | ENSP00000500982.1:p.Leu598Pro | |
| ENST00000673816.1:c.1799T>C | ENSP00000501127.1:p.Leu600Pro | |
| ENST00000673832.1:n.351T>C | ||
| ENST00000673841.1:c.1799T>C | ENSP00000501225.1:p.Leu600Pro | |
| ENST00000673847.1:c.1799T>C | ENSP00000501185.1:p.Leu600Pro | |
| ENST00000673858.1:c.*1125T>C | ENSP00000501196.1:n.*1125T>C | |
| ENST00000673863.1:c.508T>C | ENSP00000501286.1:n.508T>C | |
| ENST00000673885.1:c.1704T>C | ENSP00000501159.1:p.Pro568= | |
| ENST00000673942.1:c.1793T>C | ENSP00000501145.1:p.Leu598Pro | |
| ENST00000673952.1:c.1799T>C | ENSP00000501115.1:p.Leu600Pro | |
| ENST00000674028.1:n.311-1889T>C | ||
| ENST00000674080.1:c.1799T>C | ENSP00000501164.1:p.Leu600Pro | |
| ENST00000674081.1:c.1799T>C | ENSP00000501289.1:p.Leu600Pro | |
| ENST00000674153.1:c.1799T>C | ENSP00000501120.1:p.Leu600Pro | |
| ENST00000361099.7:c.1799T>C | ENSP00000354394.3:p.Leu600Pro | |
| ENST00000392322.7:c.1799T>C | ENSP00000376136.3:p.Leu600Pro | |
| ENST00000392323.6:c.1805T>C | ENSP00000376137.2:p.Leu602Pro | |
| ENST00000409465.5:c.1799T>C | ENSP00000386244.1:p.Leu600Pro | |
| ENST00000452281.5:c.*1125T>C | ENSP00000394512.1:n.*1125T>C | |
| ENST00000464072.1:n.426T>C | ||
| ENST00000540176.5:c.*1125T>C | ENSP00000438703.1:n.*1125T>C | |
| NM_007315.3:c.1799T>C , LRG_111t1:c.1799T>C | NP_009330.1:p.Leu600Pro | |
| NM_139266.2:c.1799T>C | NP_644671.1:p.Leu600Pro | |
| XM_006712718.1:c.1799T>C | XP_006712781.1:p.Leu600Pro | |
| XM_017004783.2:c.1805T>C | XP_016860272.1:p.Leu602Pro | |
| XR_001738914.2:n.2192T>C | ||
| XR_001738915.2:n.2134T>C | ||
| NM_007315.4:c.1799T>C MANE Select | NP_009330.1:p.Leu600Pro | |
| NM_001384880.1:c.1739T>C | NP_001371809.1:p.Leu580Pro | |
| NM_001384881.1:c.1805T>C | NP_001371810.1:p.Leu602Pro | |
| NM_001384882.1:c.1793T>C | NP_001371811.1:p.Leu598Pro | |
| NM_001384883.1:c.1700T>C | NP_001371812.1:p.Leu567Pro | |
| NM_001384884.1:c.1805T>C | NP_001371813.1:p.Leu602Pro | |
| NM_001384885.1:c.1640T>C | NP_001371814.1:p.Leu547Pro | |
| NM_001384886.1:c.1799T>C | NP_001371815.1:p.Leu600Pro | |
| NM_001384887.1:c.1706T>C | NP_001371816.1:p.Leu569Pro | |
| NM_001384888.1:c.1769T>C | NP_001371817.1:p.Leu590Pro | |
| NM_001384889.1:c.1799T>C | NP_001371818.1:p.Leu600Pro | |
| NM_001384890.1:c.1709T>C | NP_001371819.1:p.Leu570Pro | |
| NM_001384891.1:c.1835T>C | NP_001371820.1:p.Leu612Pro | |
| NM_139266.3:c.1799T>C | NP_644671.1:p.Leu600Pro |