Linked Data
ClinVar Variation Id:
1588820
ClinVar RCV Id:
RCV002098497
dbSNP Id:
rs893380370
ExAC:
8:17918874 G / A
gnomAD v2:
8-17918874-G-A
gnomAD v3:
8-18061365-G-A
gnomAD v4:
8-18061365-G-A
COSMIC:
COSN19708213
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18061365G>A , CM000670.2:g.18061365G>A | GRCh38 |
| NC_000008.10:g.17918874G>A , CM000670.1:g.17918874G>A | GRCh37 |
| NC_000008.9:g.17963154G>A | NCBI36 |
| NG_008985.1:g.28634C>T | |
| NG_008985.2:g.28634C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000381733.9:c.833+12C>T | ENSP00000371152.4:n.833+12C>T | |
| ENST00000518746.2:n.2471+12C>T | ||
| ENST00000520781.6:c.710+12C>T | ENSP00000427751.1:n.710+12C>T | |
| ENST00000521542.2:n.105C>T | ||
| ENST00000635756.1:c.198+12C>T | ||
| ENST00000635944.1:c.*621+12C>T | ENSP00000490195.1:n.*621+12C>T | |
| ENST00000635998.1:c.785+12C>T | ENSP00000490506.1:n.785+12C>T | |
| ENST00000636009.1:c.642+12C>T | ENSP00000489988.1:n.642+12C>T | |
| ENST00000636033.1:c.*621+12C>T | ENSP00000489617.1:n.*621+12C>T | |
| ENST00000636050.1:c.*628+12C>T | ENSP00000490562.1:n.*628+12C>T | |
| ENST00000636128.1:c.464+12C>T | ENSP00000489789.1:n.464+12C>T | |
| ENST00000636160.1:c.*677+12C>T | ENSP00000489651.1:n.*677+12C>T | |
| ENST00000636171.1:c.728+12C>T | ENSP00000489761.1:n.728+12C>T | |
| ENST00000636455.1:c.833+12C>T | ENSP00000490502.1:n.833+12C>T | |
| ENST00000636494.1:c.*565+12C>T | ENSP00000490388.1:n.*565+12C>T | |
| ENST00000636563.1:n.447+12C>T | ||
| ENST00000636577.1:c.725+12C>T | ENSP00000490027.1:n.725+12C>T | |
| ENST00000636691.1:c.590+12C>T | ENSP00000490725.1:n.590+12C>T | |
| ENST00000636701.1:c.*436+12C>T | ENSP00000489800.1:n.*436+12C>T | |
| ENST00000636815.1:c.702+12C>T | ||
| ENST00000636920.1:c.*621+12C>T | ENSP00000490437.1:n.*621+12C>T | |
| ENST00000636997.1:c.698+12C>T | ENSP00000490093.1:n.698+12C>T | |
| ENST00000637013.1:c.*1153+12C>T | ENSP00000490596.1:n.*1153+12C>T | |
| ENST00000637014.1:n.1192+12C>T | ||
| ENST00000637095.1:c.*565+12C>T | ENSP00000490415.1:n.*565+12C>T | |
| ENST00000637244.1:c.*1303+12C>T | ENSP00000490188.1:n.*1303+12C>T | |
| ENST00000637343.1:n.2222+12C>T | ||
| ENST00000637429.1:c.*997+12C>T | ENSP00000490522.1:n.*997+12C>T | |
| ENST00000637484.1:c.*747+12C>T | ENSP00000490837.1:n.*747+12C>T | |
| ENST00000637528.1:c.722+12C>T | ENSP00000490801.1:n.722+12C>T | |
| ENST00000637609.1:n.3506+12C>T | ||
| ENST00000637636.1:c.779+12C>T | ENSP00000490112.1:n.779+12C>T | |
| ENST00000637790.2:c.785+12C>T MANE Select | ENSP00000490272.1:n.785+12C>T | |
| ENST00000637857.1:n.1151+12C>T | ||
| ENST00000637922.1:c.590+12C>T | ENSP00000490071.1:n.590+12C>T | |
| ENST00000637991.1:c.758+12C>T | ENSP00000489901.1:n.758+12C>T | |
| ENST00000638028.1:n.1002+12C>T | ||
| ENST00000638069.1:n.1606+12C>T | ||
| ENST00000262097.10:c.785+12C>T | ENSP00000262097.6:n.785+12C>T | |
| ENST00000314146.10:c.767+12C>T | ENSP00000326970.10:n.767+12C>T | |
| ENST00000381733.8:c.833+12C>T | ENSP00000371152.4:n.833+12C>T | |
| ENST00000519468.5:n.614+12C>T | ||
| ENST00000520781.5:c.710+12C>T | ENSP00000427751.1:n.710+12C>T | |
| ENST00000521542.1:n.498+12C>T | ||
| NM_001127505.1:c.767+12C>T | NP_001120977.1:n.767+12C>T | |
| NM_001127505.2:c.767+12C>T | NP_001120977.1:n.767+12C>T | |
| NM_004315.4:c.833+12C>T | NP_004306.3:n.833+12C>T | |
| NM_004315.5:c.833+12C>T | NP_004306.3:n.833+12C>T | |
| NM_177924.3:c.785+12C>T | NP_808592.2:n.785+12C>T | |
| NM_177924.4:c.785+12C>T | NP_808592.2:n.785+12C>T | |
| XM_005273504.2:c.719+12C>T | XP_005273561.1:n.719+12C>T | |
| NM_001363743.1:c.590+12C>T | NP_001350672.1:n.590+12C>T | |
| XM_005273504.3:c.719+12C>T | XP_005273561.1:n.719+12C>T | |
| NM_177924.5:c.785+12C>T MANE Select | NP_808592.2:n.785+12C>T | |
| NM_001127505.3:c.767+12C>T | NP_001120977.1:n.767+12C>T | |
| NM_001363743.2:c.590+12C>T | NP_001350672.1:n.590+12C>T | |
| NM_004315.6:c.833+12C>T | NP_004306.3:n.833+12C>T |