ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18059568T>C , CM000670.2:g.18059568T>C | GRCh38 |
| NC_000008.10:g.17917077T>C , CM000670.1:g.17917077T>C | GRCh37 |
| NC_000008.9:g.17961357T>C | NCBI36 |
| NG_008985.1:g.30431A>G | |
| NG_008985.2:g.30431A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381733.9:c.965+4A>G | ENSP00000371152.4:n.965+4A>G | |
| ENST00000518746.2:n.2603+4A>G | ||
| ENST00000520781.6:c.842+4A>G | ENSP00000427751.1:n.842+4A>G | |
| ENST00000635756.1:c.330+4A>G | ||
| ENST00000635944.1:c.*753+4A>G | ENSP00000490195.1:n.*753+4A>G | |
| ENST00000635998.1:c.917+4A>G | ENSP00000490506.1:n.917+4A>G | |
| ENST00000636009.1:c.774+4A>G | ENSP00000489988.1:n.774+4A>G | |
| ENST00000636033.1:c.*753+4A>G | ENSP00000489617.1:n.*753+4A>G | |
| ENST00000636050.1:c.*760+4A>G | ENSP00000490562.1:n.*760+4A>G | |
| ENST00000636128.1:c.596+4A>G | ENSP00000489789.1:n.596+4A>G | |
| ENST00000636160.1:c.*809+4A>G | ENSP00000489651.1:n.*809+4A>G | |
| ENST00000636171.1:c.860+4A>G | ENSP00000489761.1:n.860+4A>G | |
| ENST00000636455.1:c.965+4A>G | ENSP00000490502.1:n.965+4A>G | |
| ENST00000636494.1:c.*697+4A>G | ENSP00000490388.1:n.*697+4A>G | |
| ENST00000636563.1:n.579+4A>G | ||
| ENST00000636577.1:c.857+4A>G | ENSP00000490027.1:n.857+4A>G | |
| ENST00000636691.1:c.722+4A>G | ENSP00000490725.1:n.722+4A>G | |
| ENST00000636701.1:c.*568+4A>G | ENSP00000489800.1:n.*568+4A>G | |
| ENST00000636815.1:c.834+4A>G | ||
| ENST00000636920.1:c.*753+4A>G | ENSP00000490437.1:n.*753+4A>G | |
| ENST00000636997.1:c.830+4A>G | ENSP00000490093.1:n.830+4A>G | |
| ENST00000637013.1:c.*1285+4A>G | ENSP00000490596.1:n.*1285+4A>G | |
| ENST00000637014.1:n.1324+4A>G | ||
| ENST00000637095.1:c.*697+4A>G | ENSP00000490415.1:n.*697+4A>G | |
| ENST00000637244.1:c.*1435+4A>G | ENSP00000490188.1:n.*1435+4A>G | |
| ENST00000637343.1:n.2354+4A>G | ||
| ENST00000637429.1:c.*1129+4A>G | ENSP00000490522.1:n.*1129+4A>G | |
| ENST00000637484.1:c.*879+4A>G | ENSP00000490837.1:n.*879+4A>G | |
| ENST00000637528.1:c.854+4A>G | ENSP00000490801.1:n.854+4A>G | |
| ENST00000637609.1:n.3638+4A>G | ||
| ENST00000637636.1:c.911+4A>G | ENSP00000490112.1:n.911+4A>G | |
| ENST00000637790.2:c.917+4A>G MANE Select | ENSP00000490272.1:n.917+4A>G | |
| ENST00000637857.1:n.1283+4A>G | ||
| ENST00000637922.1:c.722+4A>G | ENSP00000490071.1:n.722+4A>G | |
| ENST00000637991.1:c.890+4A>G | ENSP00000489901.1:n.890+4A>G | |
| ENST00000638028.1:n.1134+4A>G | ||
| ENST00000638069.1:n.1738+4A>G | ||
| ENST00000262097.10:c.917+4A>G | ENSP00000262097.6:n.917+4A>G | |
| ENST00000314146.10:c.899+4A>G | ENSP00000326970.10:n.899+4A>G | |
| ENST00000381733.8:c.965+4A>G | ENSP00000371152.4:n.965+4A>G | |
| ENST00000520781.5:c.842+4A>G | ENSP00000427751.1:n.842+4A>G | |
| NM_001127505.1:c.899+4A>G | NP_001120977.1:n.899+4A>G | |
| NM_001127505.2:c.899+4A>G | NP_001120977.1:n.899+4A>G | |
| NM_004315.4:c.965+4A>G | NP_004306.3:n.965+4A>G | |
| NM_004315.5:c.965+4A>G | NP_004306.3:n.965+4A>G | |
| NM_177924.3:c.917+4A>G | NP_808592.2:n.917+4A>G | |
| NM_177924.4:c.917+4A>G | NP_808592.2:n.917+4A>G | |
| XM_005273504.2:c.851+4A>G | XP_005273561.1:n.851+4A>G | |
| NM_001363743.1:c.722+4A>G | NP_001350672.1:n.722+4A>G | |
| XM_005273504.3:c.851+4A>G | XP_005273561.1:n.851+4A>G | |
| NM_177924.5:c.917+4A>G MANE Select | NP_808592.2:n.917+4A>G | |
| NM_001127505.3:c.899+4A>G | NP_001120977.1:n.899+4A>G | |
| NM_001363743.2:c.722+4A>G | NP_001350672.1:n.722+4A>G | |
| NM_004315.6:c.965+4A>G | NP_004306.3:n.965+4A>G |