ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18062278C>G , CM000670.2:g.18062278C>G | GRCh38 |
| NC_000008.10:g.17919787C>G , CM000670.1:g.17919787C>G | GRCh37 |
| NC_000008.9:g.17964067C>G | NCBI36 |
| NG_008985.1:g.27721G>C | |
| NG_008985.2:g.27721G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381733.9:c.696+1G>C | ENSP00000371152.4:n.696+1G>C | |
| ENST00000517409.2:n.586G>C | ||
| ENST00000518746.2:n.1570G>C | ||
| ENST00000519545.6:n.665+1G>C | ||
| ENST00000520781.6:c.573+1G>C | ENSP00000427751.1:n.573+1G>C | |
| ENST00000635756.1:c.70+1G>C | ||
| ENST00000635944.1:c.*484+1G>C | ENSP00000490195.1:n.*484+1G>C | |
| ENST00000635998.1:c.648+1G>C | ENSP00000490506.1:n.648+1G>C | |
| ENST00000636009.1:c.505+1G>C | ENSP00000489988.1:n.505+1G>C | |
| ENST00000636033.1:c.*484+1G>C | ENSP00000489617.1:n.*484+1G>C | |
| ENST00000636050.1:c.*491+1G>C | ENSP00000490562.1:n.*491+1G>C | |
| ENST00000636128.1:c.383-820G>C | ENSP00000489789.1:n.383-820G>C | |
| ENST00000636160.1:c.*540+1G>C | ENSP00000489651.1:n.*540+1G>C | |
| ENST00000636171.1:c.591+1G>C | ENSP00000489761.1:n.591+1G>C | |
| ENST00000636455.1:c.696+1G>C | ENSP00000490502.1:n.696+1G>C | |
| ENST00000636494.1:c.*428+1G>C | ENSP00000490388.1:n.*428+1G>C | |
| ENST00000636563.1:n.310+1G>C | ||
| ENST00000636577.1:c.588+1G>C | ENSP00000490027.1:n.588+1G>C | |
| ENST00000636691.1:c.453+1G>C | ENSP00000490725.1:n.453+1G>C | |
| ENST00000636701.1:c.*299+1G>C | ENSP00000489800.1:n.*299+1G>C | |
| ENST00000636719.1:n.443G>C | ||
| ENST00000636815.1:c.565+1G>C | ||
| ENST00000636920.1:c.*484+1G>C | ENSP00000490437.1:n.*484+1G>C | |
| ENST00000636997.1:c.561+1G>C | ENSP00000490093.1:n.561+1G>C | |
| ENST00000637013.1:c.*1016+1G>C | ENSP00000490596.1:n.*1016+1G>C | |
| ENST00000637014.1:n.518G>C | ||
| ENST00000637095.1:c.*428+1G>C | ENSP00000490415.1:n.*428+1G>C | |
| ENST00000637244.1:c.*1166+1G>C | ENSP00000490188.1:n.*1166+1G>C | |
| ENST00000637343.1:n.2085+1G>C | ||
| ENST00000637429.1:c.*860+1G>C | ENSP00000490522.1:n.*860+1G>C | |
| ENST00000637484.1:c.*610+1G>C | ENSP00000490837.1:n.*610+1G>C | |
| ENST00000637528.1:c.585+1G>C | ENSP00000490801.1:n.585+1G>C | |
| ENST00000637609.1:n.3369+1G>C | ||
| ENST00000637636.1:c.642+1G>C | ENSP00000490112.1:n.642+1G>C | |
| ENST00000637790.2:c.648+1G>C MANE Select | ENSP00000490272.1:n.648+1G>C | |
| ENST00000637857.1:n.250G>C | ||
| ENST00000637922.1:c.453+1G>C | ENSP00000490071.1:n.453+1G>C | |
| ENST00000637991.1:c.621+1G>C | ENSP00000489901.1:n.621+1G>C | |
| ENST00000638028.1:n.865+1G>C | ||
| ENST00000638069.1:n.705G>C | ||
| ENST00000262097.10:c.648+1G>C | ENSP00000262097.6:n.648+1G>C | |
| ENST00000314146.10:c.630+1G>C | ENSP00000326970.10:n.630+1G>C | |
| ENST00000381733.8:c.696+1G>C | ENSP00000371152.4:n.696+1G>C | |
| ENST00000519468.5:n.477+1G>C | ||
| ENST00000520781.5:c.573+1G>C | ENSP00000427751.1:n.573+1G>C | |
| ENST00000523593.5:n.501+1G>C | ||
| NM_001127505.1:c.630+1G>C | NP_001120977.1:n.630+1G>C | |
| NM_001127505.2:c.630+1G>C | NP_001120977.1:n.630+1G>C | |
| NM_004315.4:c.696+1G>C | NP_004306.3:n.696+1G>C | |
| NM_004315.5:c.696+1G>C | NP_004306.3:n.696+1G>C | |
| NM_177924.3:c.648+1G>C | NP_808592.2:n.648+1G>C | |
| NM_177924.4:c.648+1G>C | NP_808592.2:n.648+1G>C | |
| XM_005273504.2:c.582+1G>C | XP_005273561.1:n.582+1G>C | |
| NM_001363743.1:c.453+1G>C | NP_001350672.1:n.453+1G>C | |
| XM_005273504.3:c.582+1G>C | XP_005273561.1:n.582+1G>C | |
| NM_177924.5:c.648+1G>C MANE Select | NP_808592.2:n.648+1G>C | |
| NM_001127505.3:c.630+1G>C | NP_001120977.1:n.630+1G>C | |
| NM_001363743.2:c.453+1G>C | NP_001350672.1:n.453+1G>C | |
| NM_004315.6:c.696+1G>C | NP_004306.3:n.696+1G>C |