Linked Data
dbSNP Id:
rs911445394
gnomAD v2:
1-76215293-T-C
gnomAD v3:
1-75749608-T-C
gnomAD v4:
1-75749608-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75749608T>C , CM000663.2:g.75749608T>C | GRCh38 |
| NC_000001.10:g.76215293T>C , CM000663.1:g.76215293T>C | GRCh37 |
| NC_000001.9:g.75987881T>C | NCBI36 |
| NG_007045.2:g.30251T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370841.9:c.849+49T>C MANE Select | ENSP00000359878.5:n.849+49T>C | |
| ENST00000473018.3:n.2973+49T>C | ||
| ENST00000532207.6:n.1738+49T>C | ||
| ENST00000541113.6:c.849+49T>C | ENSP00000442324.2:n.849+49T>C | |
| ENST00000679509.1:n.1811+49T>C | ||
| ENST00000679530.1:c.*617+49T>C | ENSP00000506454.1:n.*617+49T>C | |
| ENST00000679615.1:n.2864+49T>C | ||
| ENST00000679687.1:c.411+49T>C | ENSP00000506598.1:n.411+49T>C | |
| ENST00000679704.1:c.*615+49T>C | ENSP00000505117.1:n.*615+49T>C | |
| ENST00000679709.1:c.*812+49T>C | ENSP00000506623.1:n.*812+49T>C | |
| ENST00000679976.1:c.*433+49T>C | ENSP00000505565.1:n.*433+49T>C | |
| ENST00000680166.1:n.4138+49T>C | ||
| ENST00000680517.1:c.*237+49T>C | ENSP00000505803.1:n.*237+49T>C | |
| ENST00000680582.1:n.1811+49T>C | ||
| ENST00000680613.1:c.*220+49T>C | ENSP00000506114.1:n.*220+49T>C | |
| ENST00000680662.1:c.*763+49T>C | ENSP00000505080.1:n.*763+49T>C | |
| ENST00000680691.1:c.*512+49T>C | ENSP00000506487.1:n.*512+49T>C | |
| ENST00000680694.1:c.*437+49T>C | ENSP00000505658.1:n.*437+49T>C | |
| ENST00000680743.1:c.*516+49T>C | ENSP00000505073.1:n.*516+49T>C | |
| ENST00000680749.1:c.*134+49T>C | ENSP00000505122.1:n.*134+49T>C | |
| ENST00000680798.1:c.*324+49T>C | ENSP00000505670.1:n.*324+49T>C | |
| ENST00000680805.1:c.709-843T>C | ENSP00000505447.1:n.709-843T>C | |
| ENST00000680844.1:c.*633+49T>C | ENSP00000506541.1:n.*633+49T>C | |
| ENST00000680948.1:c.*716+49T>C | ENSP00000505441.1:n.*716+49T>C | |
| ENST00000680964.1:c.849+49T>C | ENSP00000505961.1:n.849+49T>C | |
| ENST00000681037.1:c.*2333+49T>C | ENSP00000506025.1:n.*2333+49T>C | |
| ENST00000681063.1:c.600-843T>C | ENSP00000506616.1:n.600-843T>C | |
| ENST00000681209.1:c.*504+49T>C | ENSP00000505877.1:n.*504+49T>C | |
| ENST00000681278.1:n.1206+49T>C | ||
| ENST00000681289.1:n.4844+49T>C | ||
| ENST00000681361.1:c.*516+49T>C | ENSP00000506679.1:n.*516+49T>C | |
| ENST00000681430.1:c.849+49T>C | ENSP00000506301.1:n.849+49T>C | |
| ENST00000681446.1:c.*431+49T>C | ENSP00000506244.1:n.*431+49T>C | |
| ENST00000681450.1:c.*520+49T>C | ENSP00000505660.1:n.*520+49T>C | |
| ENST00000681548.1:c.*435+49T>C | ENSP00000505275.1:n.*435+49T>C | |
| ENST00000681616.1:c.*508+49T>C | ENSP00000505111.1:n.*508+49T>C | |
| ENST00000681621.1:c.*433+49T>C | ENSP00000505770.1:n.*433+49T>C | |
| ENST00000681680.1:n.2944+49T>C | ||
| ENST00000681720.1:c.*304+49T>C | ENSP00000505438.1:n.*304+49T>C | |
| ENST00000681730.1:n.1071+49T>C | ||
| ENST00000681790.1:c.591+49T>C | ENSP00000505130.1:n.591+49T>C | |
| ENST00000681837.1:n.1465+49T>C | ||
| ENST00000681913.1:n.2973+49T>C | ||
| ENST00000681916.1:c.*617+49T>C | ENSP00000506477.1:n.*617+49T>C | |
| ENST00000681930.1:n.2973+49T>C | ||
| ENST00000370834.9:c.948+49T>C | ENSP00000359871.5:n.948+49T>C | |
| ENST00000370841.8:c.849+49T>C | ENSP00000359878.4:n.849+49T>C | |
| ENST00000420607.6:c.861+49T>C | ENSP00000409612.2:n.861+49T>C | |
| ENST00000525808.5:c.*435+49T>C | ENSP00000434823.1:n.*435+49T>C | |
| ENST00000526129.5:c.*633+49T>C | ENSP00000434092.1:n.*633+49T>C | |
| ENST00000526196.5:c.*617+49T>C | ENSP00000431953.1:n.*617+49T>C | |
| ENST00000528016.1:c.63+49T>C | ENSP00000434284.1:n.63+49T>C | |
| ENST00000529059.5:n.758+49T>C | ||
| ENST00000532207.5:n.579+49T>C | ||
| ENST00000534334.5:c.*433+49T>C | ENSP00000435584.1:n.*433+49T>C | |
| ENST00000541113.5:c.741+49T>C | ENSP00000442324.1:n.741+49T>C | |
| NM_000016.5:c.849+49T>C | NP_000007.1:n.849+49T>C | |
| NM_001127328.2:c.861+49T>C | NP_001120800.1:n.861+49T>C | |
| NM_001286042.1:c.741+49T>C | NP_001272971.1:n.741+49T>C | |
| NM_001286043.1:c.948+49T>C | NP_001272972.1:n.948+49T>C | |
| NM_001286044.1:c.282+49T>C | NP_001272973.1:n.282+49T>C | |
| NM_000016.6:c.849+49T>C MANE Select | NP_000007.1:n.849+49T>C | |
| NM_001127328.3:c.861+49T>C | NP_001120800.1:n.861+49T>C | |
| NM_001286042.2:c.741+49T>C | NP_001272971.1:n.741+49T>C | |
| NM_001286043.2:c.948+49T>C | NP_001272972.1:n.948+49T>C | |
| NM_001286044.2:c.282+49T>C | NP_001272973.1:n.282+49T>C |