Linked Data
dbSNP Id:
rs3934492
gnomAD v2:
17-79033964-C-G
gnomAD v3:
17-81060164-C-G
gnomAD v4:
17-81060164-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.81060164C>G , CM000679.2:g.81060164C>G | GRCh38 |
| NC_000017.10:g.79033964C>G , CM000679.1:g.79033964C>G | GRCh37 |
| NC_000017.9:g.76648559C>G | NCBI36 |
| NG_029486.1:g.30018C>G | |
| NG_029486.2:g.30018C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000428708.7:c.217+2197C>G MANE Select | ENSP00000401022.2:n.217+2197C>G | |
| ENST00000321280.11:c.217+2197C>G | ENSP00000315685.7:n.217+2197C>G | |
| ENST00000321300.10:c.217+2197C>G | ENSP00000316338.6:n.217+2197C>G | |
| ENST00000428708.6:c.217+2197C>G | ENSP00000401022.2:n.217+2197C>G | |
| ENST00000435091.7:c.217+2197C>G | ENSP00000413069.3:n.217+2197C>G | |
| ENST00000570913.5:n.321+2197C>G | ||
| ENST00000571530.5:c.157+2197C>G | ENSP00000458202.1:n.157+2197C>G | |
| ENST00000572073.5:c.43+2197C>G | ENSP00000459787.1:n.43+2197C>G | |
| ENST00000572329.5:c.316+2197C>G | ENSP00000460492.1:n.316+2197C>G | |
| ENST00000572918.5:c.157+2197C>G | ENSP00000460131.1:n.157+2197C>G | |
| ENST00000573017.5:n.252+2197C>G | ||
| ENST00000573659.5:c.43+2197C>G | ENSP00000461736.1:n.43+2197C>G | |
| ENST00000573677.5:c.43+2197C>G | ENSP00000458735.1:n.43+2197C>G | |
| ENST00000573894.5:n.296+2197C>G | ||
| ENST00000574804.5:c.43+2197C>G | ENSP00000459730.1:n.43+2197C>G | |
| ENST00000575245.5:c.316+2197C>G | ENSP00000461144.1:n.316+2197C>G | |
| ENST00000575712.5:c.217+2197C>G | ENSP00000458964.1:n.217+2197C>G | |
| ENST00000575750.5:c.217+2197C>G | ENSP00000460344.1:n.217+2197C>G | |
| ENST00000575958.5:c.43+2197C>G | ENSP00000458522.1:n.43+2197C>G | |
| ENST00000575989.5:c.43+2197C>G | ENSP00000458494.1:n.43+2197C>G | |
| ENST00000576470.5:n.324+2197C>G | ||
| NM_001144888.1:c.217+2197C>G | NP_001138360.1:n.217+2197C>G | |
| NM_006340.2:c.217+2197C>G | NP_006331.1:n.217+2197C>G | |
| NM_017450.2:c.217+2197C>G | NP_059344.1:n.217+2197C>G | |
| NM_017451.2:c.217+2197C>G | NP_059345.1:n.217+2197C>G | |
| XM_005256943.1:c.316+2197C>G | XP_005257000.1:n.316+2197C>G | |
| XM_005256944.1:c.316+2197C>G | XP_005257001.1:n.316+2197C>G | |
| XM_005256945.1:c.316+2197C>G | XP_005257002.1:n.316+2197C>G | |
| XM_005256948.2:c.217+2197C>G | XP_005257005.1:n.217+2197C>G | |
| XM_006721635.1:c.316+2197C>G | XP_006721698.1:n.316+2197C>G | |
| XM_006721636.1:c.316+2197C>G | XP_006721699.1:n.316+2197C>G | |
| XM_006721637.1:c.217+2197C>G | XP_006721700.1:n.217+2197C>G | |
| XM_011524193.1:c.316+2197C>G | XP_011522495.1:n.316+2197C>G | |
| XM_011524194.1:c.316+2197C>G | XP_011522496.1:n.316+2197C>G | |
| XM_005256948.3:c.217+2197C>G | XP_005257005.1:n.217+2197C>G | |
| XM_006721637.2:c.217+2197C>G | XP_006721700.1:n.217+2197C>G | |
| XM_017024017.1:c.199+2197C>G | XP_016879506.1:n.199+2197C>G | |
| XM_024450534.1:c.-541+2197C>G | XP_024306302.1:n.-541+2197C>G | |
| NM_001144888.2:c.217+2197C>G MANE Select | NP_001138360.1:n.217+2197C>G | |
| NM_006340.3:c.217+2197C>G | NP_006331.1:n.217+2197C>G | |
| NM_017450.3:c.217+2197C>G | NP_059344.1:n.217+2197C>G | |
| NM_017451.3:c.217+2197C>G | NP_059345.1:n.217+2197C>G | |
| NM_001385127.1:c.217+2197C>G | NP_001372056.1:n.217+2197C>G | |
| NM_001385128.1:c.217+2197C>G | NP_001372057.1:n.217+2197C>G | |
| NM_001385129.1:c.316+2197C>G | NP_001372058.1:n.316+2197C>G | |
| NM_001385130.1:c.316+2197C>G | NP_001372059.1:n.316+2197C>G | |
| NM_001385131.1:c.217+2197C>G | NP_001372060.1:n.217+2197C>G | |
| NM_001385132.1:c.316+2197C>G | NP_001372061.1:n.316+2197C>G | |
| NM_001385133.1:c.316+2197C>G | NP_001372062.1:n.316+2197C>G | |
| NM_001385134.1:c.316+2197C>G | NP_001372063.1:n.316+2197C>G | |
| NM_001385135.1:c.316+2197C>G | NP_001372064.1:n.316+2197C>G | |
| NM_001385136.1:c.316+2197C>G | NP_001372065.1:n.316+2197C>G | |
| NM_001385137.1:c.292+2197C>G | NP_001372066.1:n.292+2197C>G | |
| NM_001385138.1:c.217+2197C>G | NP_001372067.1:n.217+2197C>G | |
| NM_001385139.1:c.217+2197C>G | NP_001372068.1:n.217+2197C>G | |
| NM_001385140.1:c.217+2197C>G | NP_001372069.1:n.217+2197C>G | |
| NM_001385141.1:c.217+2197C>G | NP_001372070.1:n.217+2197C>G | |
| NM_001385144.1:c.217+2197C>G | NP_001372073.1:n.217+2197C>G | |
| NM_001385145.1:c.217+2197C>G | NP_001372074.1:n.217+2197C>G | |
| NM_001385146.1:c.217+2197C>G | NP_001372075.1:n.217+2197C>G | |
| NM_001385147.1:c.43+2197C>G | NP_001372076.1:n.43+2197C>G | |
| NM_001385148.1:c.43+2197C>G | NP_001372077.1:n.43+2197C>G | |
| NM_001385149.1:c.43+2197C>G | NP_001372078.1:n.43+2197C>G | |
| NR_169574.1:n.321+2197C>G | ||
| NR_169575.1:n.321+2197C>G | ||
| NR_169576.1:n.420+2197C>G | ||
| NR_169577.1:n.321+2197C>G | ||
| NR_169578.1:n.321+2197C>G | ||
| NR_169579.1:n.420+2197C>G | ||
| NR_169580.1:n.148+2197C>G |