Linked Data
ClinVar Variation Id:
679007
ClinVar RCV Id:
RCV000838640
dbSNP Id:
rs201513748
ExAC:
8:17918998 G / A
gnomAD v2:
8-17918998-G-A
gnomAD v3:
8-18061489-G-A
gnomAD v4:
8-18061489-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18061489G>A , CM000670.2:g.18061489G>A | GRCh38 |
| NC_000008.10:g.17918998G>A , CM000670.1:g.17918998G>A | GRCh37 |
| NC_000008.9:g.17963278G>A | NCBI36 |
| NG_008985.1:g.28510C>T | |
| NG_008985.2:g.28510C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381733.9:c.752-31C>T | ENSP00000371152.4:n.752-31C>T | |
| ENST00000517409.2:n.672-31C>T | ||
| ENST00000518746.2:n.2359C>T | ||
| ENST00000519545.6:n.721-31C>T | ||
| ENST00000520781.6:c.629-31C>T | ENSP00000427751.1:n.629-31C>T | |
| ENST00000521542.2:n.12-31C>T | ||
| ENST00000635756.1:c.126-40C>T | ||
| ENST00000635944.1:c.*540-31C>T | ENSP00000490195.1:n.*540-31C>T | |
| ENST00000635998.1:c.704-31C>T | ENSP00000490506.1:n.704-31C>T | |
| ENST00000636009.1:c.561-31C>T | ENSP00000489988.1:n.561-31C>T | |
| ENST00000636033.1:c.*540-31C>T | ENSP00000489617.1:n.*540-31C>T | |
| ENST00000636050.1:c.*547-31C>T | ENSP00000490562.1:n.*547-31C>T | |
| ENST00000636128.1:c.383-31C>T | ENSP00000489789.1:n.383-31C>T | |
| ENST00000636160.1:c.*596-31C>T | ENSP00000489651.1:n.*596-31C>T | |
| ENST00000636171.1:c.647-31C>T | ENSP00000489761.1:n.647-31C>T | |
| ENST00000636455.1:c.752-31C>T | ENSP00000490502.1:n.752-31C>T | |
| ENST00000636494.1:c.*484-31C>T | ENSP00000490388.1:n.*484-31C>T | |
| ENST00000636563.1:n.366-31C>T | ||
| ENST00000636577.1:c.644-31C>T | ENSP00000490027.1:n.644-31C>T | |
| ENST00000636691.1:c.509-31C>T | ENSP00000490725.1:n.509-31C>T | |
| ENST00000636701.1:c.*355-31C>T | ENSP00000489800.1:n.*355-31C>T | |
| ENST00000636815.1:c.621-31C>T | ||
| ENST00000636920.1:c.*540-31C>T | ENSP00000490437.1:n.*540-31C>T | |
| ENST00000636997.1:c.617-31C>T | ENSP00000490093.1:n.617-31C>T | |
| ENST00000637013.1:c.*1072-31C>T | ENSP00000490596.1:n.*1072-31C>T | |
| ENST00000637014.1:n.1111-31C>T | ||
| ENST00000637095.1:c.*484-31C>T | ENSP00000490415.1:n.*484-31C>T | |
| ENST00000637244.1:c.*1222-31C>T | ENSP00000490188.1:n.*1222-31C>T | |
| ENST00000637343.1:n.2141-31C>T | ||
| ENST00000637429.1:c.*916-31C>T | ENSP00000490522.1:n.*916-31C>T | |
| ENST00000637484.1:c.*666-31C>T | ENSP00000490837.1:n.*666-31C>T | |
| ENST00000637528.1:c.641-31C>T | ENSP00000490801.1:n.641-31C>T | |
| ENST00000637609.1:n.3425-31C>T | ||
| ENST00000637636.1:c.698-31C>T | ENSP00000490112.1:n.698-31C>T | |
| ENST00000637790.2:c.704-31C>T MANE Select | ENSP00000490272.1:n.704-31C>T | |
| ENST00000637857.1:n.1039C>T | ||
| ENST00000637922.1:c.509-31C>T | ENSP00000490071.1:n.509-31C>T | |
| ENST00000637991.1:c.677-31C>T | ENSP00000489901.1:n.677-31C>T | |
| ENST00000638028.1:n.921-31C>T | ||
| ENST00000638069.1:n.1494C>T | ||
| ENST00000262097.10:c.704-31C>T | ENSP00000262097.6:n.704-31C>T | |
| ENST00000314146.10:c.686-31C>T | ENSP00000326970.10:n.686-31C>T | |
| ENST00000381733.8:c.752-31C>T | ENSP00000371152.4:n.752-31C>T | |
| ENST00000518746.1:n.521-31C>T | ||
| ENST00000519468.5:n.533-31C>T | ||
| ENST00000520781.5:c.629-31C>T | ENSP00000427751.1:n.629-31C>T | |
| ENST00000521542.1:n.386C>T | ||
| NM_001127505.1:c.686-31C>T | NP_001120977.1:n.686-31C>T | |
| NM_001127505.2:c.686-31C>T | NP_001120977.1:n.686-31C>T | |
| NM_004315.4:c.752-31C>T | NP_004306.3:n.752-31C>T | |
| NM_004315.5:c.752-31C>T | NP_004306.3:n.752-31C>T | |
| NM_177924.3:c.704-31C>T | NP_808592.2:n.704-31C>T | |
| NM_177924.4:c.704-31C>T | NP_808592.2:n.704-31C>T | |
| XM_005273504.2:c.638-31C>T | XP_005273561.1:n.638-31C>T | |
| NM_001363743.1:c.509-31C>T | NP_001350672.1:n.509-31C>T | |
| XM_005273504.3:c.638-31C>T | XP_005273561.1:n.638-31C>T | |
| NM_177924.5:c.704-31C>T MANE Select | NP_808592.2:n.704-31C>T | |
| NM_001127505.3:c.686-31C>T | NP_001120977.1:n.686-31C>T | |
| NM_001363743.2:c.509-31C>T | NP_001350672.1:n.509-31C>T | |
| NM_004315.6:c.752-31C>T | NP_004306.3:n.752-31C>T |