Linked Data
dbSNP Id:
rs181598253
ExAC:
1:76215072 A / C
gnomAD v2:
1-76215072-A-C
gnomAD v3:
1-75749387-A-C
gnomAD v4:
1-75749387-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75749387A>C , CM000663.2:g.75749387A>C | GRCh38 |
| NC_000001.10:g.76215072A>C , CM000663.1:g.76215072A>C | GRCh37 |
| NC_000001.9:g.75987660A>C | NCBI36 |
| NG_007045.2:g.30030A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370841.9:c.709-32A>C MANE Select | ENSP00000359878.5:n.709-32A>C | |
| ENST00000473018.3:n.2833-32A>C | ||
| ENST00000532207.6:n.1598-32A>C | ||
| ENST00000541113.6:c.709-32A>C | ENSP00000442324.2:n.709-32A>C | |
| ENST00000679509.1:n.1671-32A>C | ||
| ENST00000679530.1:c.*477-32A>C | ENSP00000506454.1:n.*477-32A>C | |
| ENST00000679615.1:n.2724-32A>C | ||
| ENST00000679687.1:c.271-32A>C | ENSP00000506598.1:n.271-32A>C | |
| ENST00000679704.1:c.*475-32A>C | ENSP00000505117.1:n.*475-32A>C | |
| ENST00000679709.1:c.*672-32A>C | ENSP00000506623.1:n.*672-32A>C | |
| ENST00000679976.1:c.*293-32A>C | ENSP00000505565.1:n.*293-32A>C | |
| ENST00000680166.1:n.3998-32A>C | ||
| ENST00000680517.1:c.*97-32A>C | ENSP00000505803.1:n.*97-32A>C | |
| ENST00000680582.1:n.1671-32A>C | ||
| ENST00000680613.1:c.*80-32A>C | ENSP00000506114.1:n.*80-32A>C | |
| ENST00000680662.1:c.*623-32A>C | ENSP00000505080.1:n.*623-32A>C | |
| ENST00000680691.1:c.*372-32A>C | ENSP00000506487.1:n.*372-32A>C | |
| ENST00000680694.1:c.*297-32A>C | ENSP00000505658.1:n.*297-32A>C | |
| ENST00000680743.1:c.*376-32A>C | ENSP00000505073.1:n.*376-32A>C | |
| ENST00000680749.1:c.600-32A>C | ENSP00000505122.1:n.600-32A>C | |
| ENST00000680798.1:c.*184-32A>C | ENSP00000505670.1:n.*184-32A>C | |
| ENST00000680805.1:c.709-1064A>C | ENSP00000505447.1:n.709-1064A>C | |
| ENST00000680844.1:c.*493-32A>C | ENSP00000506541.1:n.*493-32A>C | |
| ENST00000680948.1:c.*576-32A>C | ENSP00000505441.1:n.*576-32A>C | |
| ENST00000680964.1:c.709-32A>C | ENSP00000505961.1:n.709-32A>C | |
| ENST00000681037.1:c.*2193-32A>C | ENSP00000506025.1:n.*2193-32A>C | |
| ENST00000681063.1:c.600-1064A>C | ENSP00000506616.1:n.600-1064A>C | |
| ENST00000681209.1:c.*364-32A>C | ENSP00000505877.1:n.*364-32A>C | |
| ENST00000681278.1:n.1066-32A>C | ||
| ENST00000681289.1:n.4704-32A>C | ||
| ENST00000681361.1:c.*376-32A>C | ENSP00000506679.1:n.*376-32A>C | |
| ENST00000681430.1:c.709-32A>C | ENSP00000506301.1:n.709-32A>C | |
| ENST00000681446.1:c.*291-32A>C | ENSP00000506244.1:n.*291-32A>C | |
| ENST00000681450.1:c.*380-32A>C | ENSP00000505660.1:n.*380-32A>C | |
| ENST00000681548.1:c.*295-32A>C | ENSP00000505275.1:n.*295-32A>C | |
| ENST00000681616.1:c.*368-32A>C | ENSP00000505111.1:n.*368-32A>C | |
| ENST00000681621.1:c.*293-32A>C | ENSP00000505770.1:n.*293-32A>C | |
| ENST00000681680.1:n.2804-32A>C | ||
| ENST00000681720.1:c.*164-32A>C | ENSP00000505438.1:n.*164-32A>C | |
| ENST00000681730.1:n.931-32A>C | ||
| ENST00000681790.1:c.451-32A>C | ENSP00000505130.1:n.451-32A>C | |
| ENST00000681837.1:n.1325-32A>C | ||
| ENST00000681913.1:n.2833-32A>C | ||
| ENST00000681916.1:c.*477-32A>C | ENSP00000506477.1:n.*477-32A>C | |
| ENST00000681930.1:n.2833-32A>C | ||
| ENST00000370834.9:c.808-32A>C | ENSP00000359871.5:n.808-32A>C | |
| ENST00000370841.8:c.709-32A>C | ENSP00000359878.4:n.709-32A>C | |
| ENST00000420607.6:c.721-32A>C | ENSP00000409612.2:n.721-32A>C | |
| ENST00000525808.5:c.*295-32A>C | ENSP00000434823.1:n.*295-32A>C | |
| ENST00000526129.5:c.*493-32A>C | ENSP00000434092.1:n.*493-32A>C | |
| ENST00000526196.5:c.*477-32A>C | ENSP00000431953.1:n.*477-32A>C | |
| ENST00000526930.1:n.482-32A>C | ||
| ENST00000529059.5:n.618-32A>C | ||
| ENST00000530953.6:c.*206-32A>C | ENSP00000431372.1:n.*206-32A>C | |
| ENST00000532207.5:n.439-32A>C | ||
| ENST00000532509.5:c.*473-32A>C | ENSP00000432522.1:n.*473-32A>C | |
| ENST00000534334.5:c.*293-32A>C | ENSP00000435584.1:n.*293-32A>C | |
| ENST00000541113.5:c.601-32A>C | ENSP00000442324.1:n.601-32A>C | |
| NM_000016.5:c.709-32A>C | NP_000007.1:n.709-32A>C | |
| NM_001127328.2:c.721-32A>C | NP_001120800.1:n.721-32A>C | |
| NM_001286042.1:c.601-32A>C | NP_001272971.1:n.601-32A>C | |
| NM_001286043.1:c.808-32A>C | NP_001272972.1:n.808-32A>C | |
| NM_001286044.1:c.142-32A>C | NP_001272973.1:n.142-32A>C | |
| NM_000016.6:c.709-32A>C MANE Select | NP_000007.1:n.709-32A>C | |
| NM_001127328.3:c.721-32A>C | NP_001120800.1:n.721-32A>C | |
| NM_001286042.2:c.601-32A>C | NP_001272971.1:n.601-32A>C | |
| NM_001286043.2:c.808-32A>C | NP_001272972.1:n.808-32A>C | |
| NM_001286044.2:c.142-32A>C | NP_001272973.1:n.142-32A>C |