Linked Data
ClinVar Variation Id:
3596
ClinVar RCV Id:
RCV000003779
dbSNP Id:
rs121434282
gnomAD v2:
1-76215237-G-C
gnomAD v4:
1-75749552-G-C
PubMed:
PMID:11486912
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75749552G>C , CM000663.2:g.75749552G>C | GRCh38 |
| NC_000001.10:g.76215237G>C , CM000663.1:g.76215237G>C | GRCh37 |
| NC_000001.9:g.75987825G>C | NCBI36 |
| NG_007045.2:g.30195G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370841.9:c.842G>C MANE Select | ENSP00000359878.5:p.Arg281Thr | |
| ENST00000473018.3:n.2966G>C | ||
| ENST00000532207.6:n.1731G>C | ||
| ENST00000541113.6:c.842G>C | ENSP00000442324.2:p.Arg281Thr | |
| ENST00000679509.1:n.1804G>C | ||
| ENST00000679530.1:c.*610G>C | ENSP00000506454.1:n.*610G>C | |
| ENST00000679615.1:n.2857G>C | ||
| ENST00000679687.1:c.404G>C | ENSP00000506598.1:p.Arg135Thr | |
| ENST00000679704.1:c.*608G>C | ENSP00000505117.1:n.*608G>C | |
| ENST00000679709.1:c.*805G>C | ENSP00000506623.1:n.*805G>C | |
| ENST00000679976.1:c.*426G>C | ENSP00000505565.1:n.*426G>C | |
| ENST00000680166.1:n.4131G>C | ||
| ENST00000680517.1:c.*230G>C | ENSP00000505803.1:n.*230G>C | |
| ENST00000680582.1:n.1804G>C | ||
| ENST00000680613.1:c.*213G>C | ENSP00000506114.1:n.*213G>C | |
| ENST00000680662.1:c.*756G>C | ENSP00000505080.1:n.*756G>C | |
| ENST00000680691.1:c.*505G>C | ENSP00000506487.1:n.*505G>C | |
| ENST00000680694.1:c.*430G>C | ENSP00000505658.1:n.*430G>C | |
| ENST00000680743.1:c.*509G>C | ENSP00000505073.1:n.*509G>C | |
| ENST00000680749.1:c.*127G>C | ENSP00000505122.1:n.*127G>C | |
| ENST00000680798.1:c.*317G>C | ENSP00000505670.1:n.*317G>C | |
| ENST00000680805.1:c.709-899G>C | ENSP00000505447.1:n.709-899G>C | |
| ENST00000680844.1:c.*626G>C | ENSP00000506541.1:n.*626G>C | |
| ENST00000680948.1:c.*709G>C | ENSP00000505441.1:n.*709G>C | |
| ENST00000680964.1:c.842G>C | ENSP00000505961.1:p.Arg281Thr | |
| ENST00000681037.1:c.*2326G>C | ENSP00000506025.1:n.*2326G>C | |
| ENST00000681063.1:c.600-899G>C | ENSP00000506616.1:n.600-899G>C | |
| ENST00000681209.1:c.*497G>C | ENSP00000505877.1:n.*497G>C | |
| ENST00000681278.1:n.1199G>C | ||
| ENST00000681289.1:n.4837G>C | ||
| ENST00000681361.1:c.*509G>C | ENSP00000506679.1:n.*509G>C | |
| ENST00000681430.1:c.842G>C | ENSP00000506301.1:p.Arg281Thr | |
| ENST00000681446.1:c.*424G>C | ENSP00000506244.1:n.*424G>C | |
| ENST00000681450.1:c.*513G>C | ENSP00000505660.1:n.*513G>C | |
| ENST00000681548.1:c.*428G>C | ENSP00000505275.1:n.*428G>C | |
| ENST00000681616.1:c.*501G>C | ENSP00000505111.1:n.*501G>C | |
| ENST00000681621.1:c.*426G>C | ENSP00000505770.1:n.*426G>C | |
| ENST00000681680.1:n.2937G>C | ||
| ENST00000681720.1:c.*297G>C | ENSP00000505438.1:n.*297G>C | |
| ENST00000681730.1:n.1064G>C | ||
| ENST00000681790.1:c.584G>C | ENSP00000505130.1:p.Arg195Thr | |
| ENST00000681837.1:n.1458G>C | ||
| ENST00000681913.1:n.2966G>C | ||
| ENST00000681916.1:c.*610G>C | ENSP00000506477.1:n.*610G>C | |
| ENST00000681930.1:n.2966G>C | ||
| ENST00000370834.9:c.941G>C | ENSP00000359871.5:p.Arg314Thr | |
| ENST00000370841.8:c.842G>C | ENSP00000359878.4:p.Arg281Thr | |
| ENST00000420607.6:c.854G>C | ENSP00000409612.2:p.Arg285Thr | |
| ENST00000525808.5:c.*428G>C | ENSP00000434823.1:n.*428G>C | |
| ENST00000526129.5:c.*626G>C | ENSP00000434092.1:n.*626G>C | |
| ENST00000526196.5:c.*610G>C | ENSP00000431953.1:n.*610G>C | |
| ENST00000528016.1:c.56G>C | ENSP00000434284.1:p.Arg19Thr | |
| ENST00000529059.5:n.751G>C | ||
| ENST00000532207.5:n.572G>C | ||
| ENST00000532509.5:c.*606G>C | ENSP00000432522.1:n.*606G>C | |
| ENST00000534334.5:c.*426G>C | ENSP00000435584.1:n.*426G>C | |
| ENST00000541113.5:c.734G>C | ENSP00000442324.1:p.Arg245Thr | |
| NM_000016.5:c.842G>C | NP_000007.1:p.Arg281Thr | |
| NM_001127328.2:c.854G>C | NP_001120800.1:p.Arg285Thr | |
| NM_001286042.1:c.734G>C | NP_001272971.1:p.Arg245Thr | |
| NM_001286043.1:c.941G>C | NP_001272972.1:p.Arg314Thr | |
| NM_001286044.1:c.275G>C | NP_001272973.1:p.Arg92Thr | |
| NM_000016.6:c.842G>C MANE Select | NP_000007.1:p.Arg281Thr | |
| NM_001127328.3:c.854G>C | NP_001120800.1:p.Arg285Thr | |
| NM_001286042.2:c.734G>C | NP_001272971.1:p.Arg245Thr | |
| NM_001286043.2:c.941G>C | NP_001272972.1:p.Arg314Thr | |
| NM_001286044.2:c.275G>C | NP_001272973.1:p.Arg92Thr |