Linked Data
ClinVar Variation Id:
3008973
ClinVar RCV Id:
RCV003862100
MyVariant Identifiers:
chr1:g.76215107T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75749422T>C , CM000663.2:g.75749422T>C | GRCh38 |
| NC_000001.10:g.76215107T>C , CM000663.1:g.76215107T>C | GRCh37 |
| NC_000001.9:g.75987695T>C | NCBI36 |
| NG_007045.2:g.30065T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370841.9:c.712T>C MANE Select | ENSP00000359878.5:p.Leu238= | |
| ENST00000473018.3:n.2836T>C | ||
| ENST00000532207.6:n.1601T>C | ||
| ENST00000541113.6:c.712T>C | ENSP00000442324.2:p.Leu238= | |
| ENST00000679509.1:n.1674T>C | ||
| ENST00000679530.1:c.*480T>C | ENSP00000506454.1:n.*480T>C | |
| ENST00000679615.1:n.2727T>C | ||
| ENST00000679687.1:c.274T>C | ENSP00000506598.1:p.Leu92= | |
| ENST00000679704.1:c.*478T>C | ENSP00000505117.1:n.*478T>C | |
| ENST00000679709.1:c.*675T>C | ENSP00000506623.1:n.*675T>C | |
| ENST00000679976.1:c.*296T>C | ENSP00000505565.1:n.*296T>C | |
| ENST00000680166.1:n.4001T>C | ||
| ENST00000680517.1:c.*100T>C | ENSP00000505803.1:n.*100T>C | |
| ENST00000680582.1:n.1674T>C | ||
| ENST00000680613.1:c.*83T>C | ENSP00000506114.1:n.*83T>C | |
| ENST00000680662.1:c.*626T>C | ENSP00000505080.1:n.*626T>C | |
| ENST00000680691.1:c.*375T>C | ENSP00000506487.1:n.*375T>C | |
| ENST00000680694.1:c.*300T>C | ENSP00000505658.1:n.*300T>C | |
| ENST00000680743.1:c.*379T>C | ENSP00000505073.1:n.*379T>C | |
| ENST00000680749.1:c.603T>C | ENSP00000505122.1:p.Asn201= | |
| ENST00000680798.1:c.*187T>C | ENSP00000505670.1:n.*187T>C | |
| ENST00000680805.1:c.709-1029T>C | ENSP00000505447.1:n.709-1029T>C | |
| ENST00000680844.1:c.*496T>C | ENSP00000506541.1:n.*496T>C | |
| ENST00000680948.1:c.*579T>C | ENSP00000505441.1:n.*579T>C | |
| ENST00000680964.1:c.712T>C | ENSP00000505961.1:p.Leu238= | |
| ENST00000681037.1:c.*2196T>C | ENSP00000506025.1:n.*2196T>C | |
| ENST00000681063.1:c.600-1029T>C | ENSP00000506616.1:n.600-1029T>C | |
| ENST00000681209.1:c.*367T>C | ENSP00000505877.1:n.*367T>C | |
| ENST00000681278.1:n.1069T>C | ||
| ENST00000681289.1:n.4707T>C | ||
| ENST00000681361.1:c.*379T>C | ENSP00000506679.1:n.*379T>C | |
| ENST00000681430.1:c.712T>C | ENSP00000506301.1:p.Leu238= | |
| ENST00000681446.1:c.*294T>C | ENSP00000506244.1:n.*294T>C | |
| ENST00000681450.1:c.*383T>C | ENSP00000505660.1:n.*383T>C | |
| ENST00000681548.1:c.*298T>C | ENSP00000505275.1:n.*298T>C | |
| ENST00000681616.1:c.*371T>C | ENSP00000505111.1:n.*371T>C | |
| ENST00000681621.1:c.*296T>C | ENSP00000505770.1:n.*296T>C | |
| ENST00000681680.1:n.2807T>C | ||
| ENST00000681720.1:c.*167T>C | ENSP00000505438.1:n.*167T>C | |
| ENST00000681730.1:n.934T>C | ||
| ENST00000681790.1:c.454T>C | ENSP00000505130.1:p.Leu152= | |
| ENST00000681837.1:n.1328T>C | ||
| ENST00000681913.1:n.2836T>C | ||
| ENST00000681916.1:c.*480T>C | ENSP00000506477.1:n.*480T>C | |
| ENST00000681930.1:n.2836T>C | ||
| ENST00000370834.9:c.811T>C | ENSP00000359871.5:p.Leu271= | |
| ENST00000370841.8:c.712T>C | ENSP00000359878.4:p.Leu238= | |
| ENST00000420607.6:c.724T>C | ENSP00000409612.2:p.Leu242= | |
| ENST00000525808.5:c.*298T>C | ENSP00000434823.1:n.*298T>C | |
| ENST00000526129.5:c.*496T>C | ENSP00000434092.1:n.*496T>C | |
| ENST00000526196.5:c.*480T>C | ENSP00000431953.1:n.*480T>C | |
| ENST00000526930.1:n.485T>C | ||
| ENST00000529059.5:n.621T>C | ||
| ENST00000530953.6:c.*209T>C | ENSP00000431372.1:n.*209T>C | |
| ENST00000532207.5:n.442T>C | ||
| ENST00000532509.5:c.*476T>C | ENSP00000432522.1:n.*476T>C | |
| ENST00000534334.5:c.*296T>C | ENSP00000435584.1:n.*296T>C | |
| ENST00000541113.5:c.604T>C | ENSP00000442324.1:p.Leu202= | |
| NM_000016.5:c.712T>C | NP_000007.1:p.Leu238= | |
| NM_001127328.2:c.724T>C | NP_001120800.1:p.Leu242= | |
| NM_001286042.1:c.604T>C | NP_001272971.1:p.Leu202= | |
| NM_001286043.1:c.811T>C | NP_001272972.1:p.Leu271= | |
| NM_001286044.1:c.145T>C | NP_001272973.1:p.Leu49= | |
| NM_000016.6:c.712T>C MANE Select | NP_000007.1:p.Leu238= | |
| NM_001127328.3:c.724T>C | NP_001120800.1:p.Leu242= | |
| NM_001286042.2:c.604T>C | NP_001272971.1:p.Leu202= | |
| NM_001286043.2:c.811T>C | NP_001272972.1:p.Leu271= | |
| NM_001286044.2:c.145T>C | NP_001272973.1:p.Leu49= |