gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.54055160T>G , CM000678.2:g.54055160T>G | GRCh38 |
| NC_000016.9:g.54089072T>G , CM000678.1:g.54089072T>G | GRCh37 |
| NC_000016.8:g.52646573T>G | NCBI36 |
| NG_012969.1:g.356198T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000471389.6:c.1365-56602T>G MANE Select | ENSP00000418823.1:n.1365-56602T>G | |
| ENST00000612285.2:c.390-56602T>G | ENSP00000490300.1:n.390-56602T>G | |
| ENST00000635892.1:n.215-56602T>G | ||
| ENST00000636992.1:c.*107+41649T>G | ENSP00000489886.1:n.*107+41649T>G | |
| ENST00000637562.1:c.1365-6502T>G | ENSP00000490426.1:n.1365-6502T>G | |
| ENST00000637845.1:c.1365-56602T>G | ENSP00000489638.1:n.1365-56602T>G | |
| ENST00000637969.1:c.1365-56602T>G | ENSP00000490516.1:n.1365-56602T>G | |
| ENST00000268349.7:c.98-56602T>G | ENSP00000268349.7:n.98-56602T>G | |
| ENST00000431610.6:c.168-56602T>G | ENSP00000415636.2:n.168-56602T>G | |
| ENST00000460382.5:c.168-56602T>G | ENSP00000417422.1:n.168-56602T>G | |
| ENST00000463855.1:c.231-56602T>G | ENSP00000417843.1:n.231-56602T>G | |
| ENST00000464071.1:c.*524-56602T>G | ENSP00000418424.1:n.*524-56602T>G | |
| ENST00000471389.5:c.1365-56602T>G | ENSP00000418823.1:n.1365-56602T>G | |
| NM_001080432.2:c.1365-56602T>G | NP_001073901.1:n.1365-56602T>G | |
| XM_011523313.1:c.1395-56602T>G | XP_011521615.1:n.1395-56602T>G | |
| NM_001363891.1:c.1395-56602T>G | NP_001350820.1:n.1395-56602T>G | |
| NM_001363894.1:c.1428-56602T>G | NP_001350823.1:n.1428-56602T>G | |
| NM_001363896.1:c.1347-56602T>G | NP_001350825.1:n.1347-56602T>G | |
| NM_001363897.1:c.1287-56602T>G | NP_001350826.1:n.1287-56602T>G | |
| NM_001363898.1:c.1251-56602T>G | NP_001350827.1:n.1251-56602T>G | |
| NM_001363899.1:c.1251-56602T>G | NP_001350828.1:n.1251-56602T>G | |
| NM_001363900.1:c.1221-56602T>G | NP_001350829.1:n.1221-56602T>G | |
| NM_001363901.1:c.1221-56602T>G | NP_001350830.1:n.1221-56602T>G | |
| NM_001363903.1:c.1240-56602T>G | NP_001350832.1:n.1240-56602T>G | |
| NM_001363905.1:c.852-56602T>G | NP_001350834.1:n.852-56602T>G | |
| NM_001363988.1:c.*23-56602T>G | NP_001350917.1:n.*23-56602T>G | |
| NR_156761.1:n.615-56602T>G | ||
| XR_933590.2:n.2243T>G | ||
| NM_001080432.3:c.1365-56602T>G MANE Select | NP_001073901.1:n.1365-56602T>G |