Linked Data
dbSNP Id:
rs754879546
ExAC:
18:21478679 A / G
gnomAD v2:
18-21478679-A-G
gnomAD v4:
18-23898715-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23898715A>G , CM000680.2:g.23898715A>G | GRCh38 |
| NC_000018.9:g.21478679A>G , CM000680.1:g.21478679A>G | GRCh37 |
| NC_000018.8:g.19732677A>G | NCBI36 |
| NG_007853.2:g.214118A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000269217.11:c.787-23A>G MANE Plus Clinical | ENSP00000269217.5:n.787-23A>G | |
| ENST00000313654.14:c.5614-23A>G MANE Select | ENSP00000324532.8:n.5614-23A>G | |
| ENST00000649721.1:c.2506-23A>G | ENSP00000497885.1:n.2506-23A>G | |
| ENST00000269217.10:c.787-23A>G | ENSP00000269217.5:n.787-23A>G | |
| ENST00000313654.13:c.5614-23A>G | ENSP00000324532.8:n.5614-23A>G | |
| ENST00000399516.7:c.5614-23A>G | ENSP00000382432.2:n.5614-23A>G | |
| ENST00000586751.5:c.392-23A>G | ||
| ENST00000587184.5:c.787-23A>G | ENSP00000466557.1:n.787-23A>G | |
| ENST00000588770.5:n.192-23A>G | ||
| NM_000227.4:c.787-23A>G | NP_000218.3:n.787-23A>G | |
| NM_001127717.2:c.5614-23A>G | NP_001121189.2:n.5614-23A>G | |
| NM_001127718.2:c.787-23A>G | NP_001121190.2:n.787-23A>G | |
| NM_198129.2:c.5614-23A>G | NP_937762.2:n.5614-23A>G | |
| XM_011525978.1:c.5641-23A>G | XP_011524280.1:n.5641-23A>G | |
| XM_011525979.1:c.5632-23A>G | XP_011524281.1:n.5632-23A>G | |
| XM_011525980.1:c.5623-23A>G | XP_011524282.1:n.5623-23A>G | |
| XM_011525981.1:c.5509-23A>G | XP_011524283.1:n.5509-23A>G | |
| XM_011525982.1:c.5641-23A>G | XP_011524284.1:n.5641-23A>G | |
| XM_011525978.2:c.5641-23A>G | XP_011524280.1:n.5641-23A>G | |
| XM_011525979.2:c.5632-23A>G | XP_011524281.1:n.5632-23A>G | |
| XM_011525980.2:c.5623-23A>G | XP_011524282.1:n.5623-23A>G | |
| XM_011525981.2:c.5509-23A>G | XP_011524283.1:n.5509-23A>G | |
| XM_011525982.2:c.5641-23A>G | XP_011524284.1:n.5641-23A>G | |
| XM_017025743.1:c.3493-23A>G | XP_016881232.1:n.3493-23A>G | |
| XM_017025744.1:c.1183-23A>G | XP_016881233.1:n.1183-23A>G | |
| XR_001753199.1:n.5882-23A>G | ||
| NM_000227.5:c.787-23A>G | NP_000218.3:n.787-23A>G | |
| NM_001127717.3:c.5614-23A>G | NP_001121189.2:n.5614-23A>G | |
| NM_001127718.3:c.787-23A>G | NP_001121190.2:n.787-23A>G | |
| NM_198129.3:c.5614-23A>G | NP_937762.2:n.5614-23A>G | |
| NM_000227.6:c.787-23A>G MANE Plus Clinical | NP_000218.3:n.787-23A>G | |
| NM_001127717.4:c.5614-23A>G | NP_001121189.2:n.5614-23A>G | |
| NM_001127718.4:c.787-23A>G | NP_001121190.2:n.787-23A>G | |
| NM_198129.4:c.5614-23A>G MANE Select | NP_937762.2:n.5614-23A>G |