Linked Data
ClinVar Variation Id:
189019
ClinVar RCV Id:
RCV000169406
dbSNP Id:
rs786204631
gnomAD v4:
1-75761153-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75761153T>C , CM000663.2:g.75761153T>C | GRCh38 |
| NC_000001.10:g.76226838T>C , CM000663.1:g.76226838T>C | GRCh37 |
| NC_000001.9:g.75999426T>C | NCBI36 |
| NG_007045.2:g.41796T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370841.9:c.977T>C MANE Select | ENSP00000359878.5:p.Met326Thr | |
| ENST00000473018.3:n.3101T>C | ||
| ENST00000532207.6:n.1988T>C | ||
| ENST00000541113.6:c.881T>C | ENSP00000442324.2:p.Met294Thr | |
| ENST00000679509.1:n.1939T>C | ||
| ENST00000679530.1:c.*745T>C | ENSP00000506454.1:n.*745T>C | |
| ENST00000679615.1:n.2992T>C | ||
| ENST00000679687.1:c.539T>C | ENSP00000506598.1:p.Met180Thr | |
| ENST00000679704.1:c.*743T>C | ENSP00000505117.1:n.*743T>C | |
| ENST00000679709.1:c.*940T>C | ENSP00000506623.1:n.*940T>C | |
| ENST00000679976.1:c.*561T>C | ENSP00000505565.1:n.*561T>C | |
| ENST00000680166.1:n.4266T>C | ||
| ENST00000680315.1:n.860T>C | ||
| ENST00000680517.1:c.*365T>C | ENSP00000505803.1:n.*365T>C | |
| ENST00000680582.1:n.1939T>C | ||
| ENST00000680613.1:c.*470T>C | ENSP00000506114.1:n.*470T>C | |
| ENST00000680662.1:c.*891T>C | ENSP00000505080.1:n.*891T>C | |
| ENST00000680691.1:c.*640T>C | ENSP00000506487.1:n.*640T>C | |
| ENST00000680694.1:c.*565T>C | ENSP00000505658.1:n.*565T>C | |
| ENST00000680743.1:c.*766T>C | ENSP00000505073.1:n.*766T>C | |
| ENST00000680749.1:c.*262T>C | ENSP00000505122.1:n.*262T>C | |
| ENST00000680798.1:c.*452T>C | ENSP00000505670.1:n.*452T>C | |
| ENST00000680805.1:c.836T>C | ENSP00000505447.1:p.Met279Thr | |
| ENST00000680844.1:c.*761T>C | ENSP00000506541.1:n.*761T>C | |
| ENST00000680948.1:c.*844T>C | ENSP00000505441.1:n.*844T>C | |
| ENST00000680964.1:c.*70T>C | ENSP00000505961.1:n.*70T>C | |
| ENST00000681037.1:c.*2461T>C | ENSP00000506025.1:n.*2461T>C | |
| ENST00000681063.1:c.*246T>C | ENSP00000506616.1:n.*246T>C | |
| ENST00000681209.1:c.*632T>C | ENSP00000505877.1:n.*632T>C | |
| ENST00000681278.1:n.1679T>C | ||
| ENST00000681289.1:n.4972T>C | ||
| ENST00000681361.1:c.*644T>C | ENSP00000506679.1:n.*644T>C | |
| ENST00000681430.1:c.*70T>C | ENSP00000506301.1:n.*70T>C | |
| ENST00000681446.1:c.*681T>C | ENSP00000506244.1:n.*681T>C | |
| ENST00000681450.1:c.*648T>C | ENSP00000505660.1:n.*648T>C | |
| ENST00000681548.1:c.*563T>C | ENSP00000505275.1:n.*563T>C | |
| ENST00000681616.1:c.*636T>C | ENSP00000505111.1:n.*636T>C | |
| ENST00000681621.1:c.*561T>C | ENSP00000505770.1:n.*561T>C | |
| ENST00000681680.1:n.3072T>C | ||
| ENST00000681720.1:c.*432T>C | ENSP00000505438.1:n.*432T>C | |
| ENST00000681730.1:n.1199T>C | ||
| ENST00000681790.1:c.719T>C | ENSP00000505130.1:p.Met240Thr | |
| ENST00000681837.1:n.1593T>C | ||
| ENST00000681913.1:n.3223T>C | ||
| ENST00000681916.1:c.*745T>C | ENSP00000506477.1:n.*745T>C | |
| ENST00000681930.1:n.3101T>C | ||
| ENST00000370834.9:c.1076T>C | ENSP00000359871.5:p.Met359Thr | |
| ENST00000370841.8:c.977T>C | ENSP00000359878.4:p.Met326Thr | |
| ENST00000420607.6:c.989T>C | ENSP00000409612.2:p.Met330Thr | |
| ENST00000481374.1:n.250T>C | ||
| ENST00000525808.5:c.*563T>C | ENSP00000434823.1:n.*563T>C | |
| ENST00000526129.5:c.*761T>C | ENSP00000434092.1:n.*761T>C | |
| ENST00000526196.5:c.*745T>C | ENSP00000431953.1:n.*745T>C | |
| ENST00000528016.1:c.160-8024T>C | ENSP00000434284.1:n.160-8024T>C | |
| ENST00000529059.5:n.886T>C | ||
| ENST00000532207.5:n.707T>C | ||
| ENST00000534334.5:c.*718T>C | ENSP00000435584.1:n.*718T>C | |
| ENST00000541113.5:c.869T>C | ENSP00000442324.1:p.Met290Thr | |
| NM_000016.5:c.977T>C | NP_000007.1:p.Met326Thr | |
| NM_001127328.2:c.989T>C | NP_001120800.1:p.Met330Thr | |
| NM_001286042.1:c.869T>C | NP_001272971.1:p.Met290Thr | |
| NM_001286043.1:c.1076T>C | NP_001272972.1:p.Met359Thr | |
| NM_001286044.1:c.410T>C | NP_001272973.1:p.Met137Thr | |
| NM_000016.6:c.977T>C MANE Select | NP_000007.1:p.Met326Thr | |
| NM_001127328.3:c.989T>C | NP_001120800.1:p.Met330Thr | |
| NM_001286042.2:c.869T>C | NP_001272971.1:p.Met290Thr | |
| NM_001286043.2:c.1076T>C | NP_001272972.1:p.Met359Thr | |
| NM_001286044.2:c.410T>C | NP_001272973.1:p.Met137Thr |