Linked Data
ClinVar Variation Id:
265452
dbSNP Id:
rs758753966
ExAC:
1:76226805 A / C
gnomAD v2:
1-76226805-A-C
gnomAD v4:
1-75761120-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75761120A>C , CM000663.2:g.75761120A>C | GRCh38 |
| NC_000001.10:g.76226805A>C , CM000663.1:g.76226805A>C | GRCh37 |
| NC_000001.9:g.75999393A>C | NCBI36 |
| NG_007045.2:g.41763A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370841.9:c.946-2A>C MANE Select | ENSP00000359878.5:n.946-2A>C | |
| ENST00000473018.3:n.3070-2A>C | ||
| ENST00000532207.6:n.1957-2A>C | ||
| ENST00000541113.6:c.850-2A>C | ENSP00000442324.2:n.850-2A>C | |
| ENST00000679509.1:n.1908-2A>C | ||
| ENST00000679530.1:c.*714-2A>C | ENSP00000506454.1:n.*714-2A>C | |
| ENST00000679615.1:n.2961-2A>C | ||
| ENST00000679687.1:c.508-2A>C | ENSP00000506598.1:n.508-2A>C | |
| ENST00000679704.1:c.*712-2A>C | ENSP00000505117.1:n.*712-2A>C | |
| ENST00000679709.1:c.*909-2A>C | ENSP00000506623.1:n.*909-2A>C | |
| ENST00000679976.1:c.*530-2A>C | ENSP00000505565.1:n.*530-2A>C | |
| ENST00000680166.1:n.4235-2A>C | ||
| ENST00000680315.1:n.829-2A>C | ||
| ENST00000680517.1:c.*334-2A>C | ENSP00000505803.1:n.*334-2A>C | |
| ENST00000680582.1:n.1908-2A>C | ||
| ENST00000680613.1:c.*439-2A>C | ENSP00000506114.1:n.*439-2A>C | |
| ENST00000680662.1:c.*860-2A>C | ENSP00000505080.1:n.*860-2A>C | |
| ENST00000680691.1:c.*609-2A>C | ENSP00000506487.1:n.*609-2A>C | |
| ENST00000680694.1:c.*534-2A>C | ENSP00000505658.1:n.*534-2A>C | |
| ENST00000680743.1:c.*735-2A>C | ENSP00000505073.1:n.*735-2A>C | |
| ENST00000680749.1:c.*231-2A>C | ENSP00000505122.1:n.*231-2A>C | |
| ENST00000680798.1:c.*421-2A>C | ENSP00000505670.1:n.*421-2A>C | |
| ENST00000680805.1:c.805-2A>C | ENSP00000505447.1:n.805-2A>C | |
| ENST00000680844.1:c.*730-2A>C | ENSP00000506541.1:n.*730-2A>C | |
| ENST00000680948.1:c.*813-2A>C | ENSP00000505441.1:n.*813-2A>C | |
| ENST00000680964.1:c.*39-2A>C | ENSP00000505961.1:n.*39-2A>C | |
| ENST00000681037.1:c.*2430-2A>C | ENSP00000506025.1:n.*2430-2A>C | |
| ENST00000681063.1:c.*215-2A>C | ENSP00000506616.1:n.*215-2A>C | |
| ENST00000681209.1:c.*601-2A>C | ENSP00000505877.1:n.*601-2A>C | |
| ENST00000681278.1:n.1648-2A>C | ||
| ENST00000681289.1:n.4941-2A>C | ||
| ENST00000681361.1:c.*613-2A>C | ENSP00000506679.1:n.*613-2A>C | |
| ENST00000681430.1:c.*39-2A>C | ENSP00000506301.1:n.*39-2A>C | |
| ENST00000681446.1:c.*650-2A>C | ENSP00000506244.1:n.*650-2A>C | |
| ENST00000681450.1:c.*617-2A>C | ENSP00000505660.1:n.*617-2A>C | |
| ENST00000681548.1:c.*532-2A>C | ENSP00000505275.1:n.*532-2A>C | |
| ENST00000681616.1:c.*605-2A>C | ENSP00000505111.1:n.*605-2A>C | |
| ENST00000681621.1:c.*530-2A>C | ENSP00000505770.1:n.*530-2A>C | |
| ENST00000681680.1:n.3041-2A>C | ||
| ENST00000681720.1:c.*401-2A>C | ENSP00000505438.1:n.*401-2A>C | |
| ENST00000681730.1:n.1168-2A>C | ||
| ENST00000681790.1:c.688-2A>C | ENSP00000505130.1:n.688-2A>C | |
| ENST00000681837.1:n.1562-2A>C | ||
| ENST00000681913.1:n.3192-2A>C | ||
| ENST00000681916.1:c.*714-2A>C | ENSP00000506477.1:n.*714-2A>C | |
| ENST00000681930.1:n.3070-2A>C | ||
| ENST00000370834.9:c.1045-2A>C | ENSP00000359871.5:n.1045-2A>C | |
| ENST00000370841.8:c.946-2A>C | ENSP00000359878.4:n.946-2A>C | |
| ENST00000420607.6:c.958-2A>C | ENSP00000409612.2:n.958-2A>C | |
| ENST00000481374.1:n.219-2A>C | ||
| ENST00000525808.5:c.*532-2A>C | ENSP00000434823.1:n.*532-2A>C | |
| ENST00000526129.5:c.*730-2A>C | ENSP00000434092.1:n.*730-2A>C | |
| ENST00000526196.5:c.*714-2A>C | ENSP00000431953.1:n.*714-2A>C | |
| ENST00000528016.1:c.160-8057A>C | ENSP00000434284.1:n.160-8057A>C | |
| ENST00000529059.5:n.855-2A>C | ||
| ENST00000532207.5:n.676-2A>C | ||
| ENST00000534334.5:c.*687-2A>C | ENSP00000435584.1:n.*687-2A>C | |
| ENST00000541113.5:c.838-2A>C | ENSP00000442324.1:n.838-2A>C | |
| NM_000016.5:c.946-2A>C | NP_000007.1:n.946-2A>C | |
| NM_001127328.2:c.958-2A>C | NP_001120800.1:n.958-2A>C | |
| NM_001286042.1:c.838-2A>C | NP_001272971.1:n.838-2A>C | |
| NM_001286043.1:c.1045-2A>C | NP_001272972.1:n.1045-2A>C | |
| NM_001286044.1:c.379-2A>C | NP_001272973.1:n.379-2A>C | |
| NM_000016.6:c.946-2A>C MANE Select | NP_000007.1:n.946-2A>C | |
| NM_001127328.3:c.958-2A>C | NP_001120800.1:n.958-2A>C | |
| NM_001286042.2:c.838-2A>C | NP_001272971.1:n.838-2A>C | |
| NM_001286043.2:c.1045-2A>C | NP_001272972.1:n.1045-2A>C | |
| NM_001286044.2:c.379-2A>C | NP_001272973.1:n.379-2A>C |