gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23881934A>G , CM000680.2:g.23881934A>G | GRCh38 |
| NC_000018.9:g.21461898A>G , CM000680.1:g.21461898A>G | GRCh37 |
| NC_000018.8:g.19715896A>G | NCBI36 |
| NG_007853.2:g.197337A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269217.11:c.286-2A>G MANE Plus Clinical | ENSP00000269217.5:n.286-2A>G | |
| ENST00000313654.14:c.5113-2A>G MANE Select | ENSP00000324532.8:n.5113-2A>G | |
| ENST00000649721.1:c.2005-2A>G | ENSP00000497885.1:n.2005-2A>G | |
| ENST00000269217.10:c.286-2A>G | ENSP00000269217.5:n.286-2A>G | |
| ENST00000313654.13:c.5113-2A>G | ENSP00000324532.8:n.5113-2A>G | |
| ENST00000399516.7:c.5113-2A>G | ENSP00000382432.2:n.5113-2A>G | |
| ENST00000587184.5:c.286-2A>G | ENSP00000466557.1:n.286-2A>G | |
| NM_000227.4:c.286-2A>G | NP_000218.3:n.286-2A>G | |
| NM_001127717.2:c.5113-2A>G | NP_001121189.2:n.5113-2A>G | |
| NM_001127718.2:c.286-2A>G | NP_001121190.2:n.286-2A>G | |
| NM_198129.2:c.5113-2A>G | NP_937762.2:n.5113-2A>G | |
| XM_011525978.1:c.5140-2A>G | XP_011524280.1:n.5140-2A>G | |
| XM_011525979.1:c.5131-2A>G | XP_011524281.1:n.5131-2A>G | |
| XM_011525980.1:c.5122-2A>G | XP_011524282.1:n.5122-2A>G | |
| XM_011525981.1:c.5008-2A>G | XP_011524283.1:n.5008-2A>G | |
| XM_011525982.1:c.5140-2A>G | XP_011524284.1:n.5140-2A>G | |
| XM_011525978.2:c.5140-2A>G | XP_011524280.1:n.5140-2A>G | |
| XM_011525979.2:c.5131-2A>G | XP_011524281.1:n.5131-2A>G | |
| XM_011525980.2:c.5122-2A>G | XP_011524282.1:n.5122-2A>G | |
| XM_011525981.2:c.5008-2A>G | XP_011524283.1:n.5008-2A>G | |
| XM_011525982.2:c.5140-2A>G | XP_011524284.1:n.5140-2A>G | |
| XM_017025743.1:c.2992-2A>G | XP_016881232.1:n.2992-2A>G | |
| XM_017025744.1:c.682-2A>G | XP_016881233.1:n.682-2A>G | |
| XR_001753199.1:n.5381-2A>G | ||
| NM_000227.5:c.286-2A>G | NP_000218.3:n.286-2A>G | |
| NM_001127717.3:c.5113-2A>G | NP_001121189.2:n.5113-2A>G | |
| NM_001127718.3:c.286-2A>G | NP_001121190.2:n.286-2A>G | |
| NM_198129.3:c.5113-2A>G | NP_937762.2:n.5113-2A>G | |
| NM_000227.6:c.286-2A>G MANE Plus Clinical | NP_000218.3:n.286-2A>G | |
| NM_001127717.4:c.5113-2A>G | NP_001121189.2:n.5113-2A>G | |
| NM_001127718.4:c.286-2A>G | NP_001121190.2:n.286-2A>G | |
| NM_198129.4:c.5113-2A>G MANE Select | NP_937762.2:n.5113-2A>G |