Linked Data
ClinVar Variation Id:
212018
dbSNP Id:
rs149189755
ExAC:
18:20516929 A / G
gnomAD v2:
18-20516929-A-G
gnomAD v3:
18-22936966-A-G
gnomAD v4:
18-22936966-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.22936966A>G , CM000680.2:g.22936966A>G | GRCh38 |
| NC_000018.9:g.20516929A>G , CM000680.1:g.20516929A>G | GRCh37 |
| NC_000018.8:g.18770927A>G | NCBI36 |
| NG_012121.1:g.8635A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327155.10:c.109+6A>G MANE Select | ENSP00000323050.5:n.109+6A>G | |
| ENST00000327155.9:c.109+6A>G | ENSP00000323050.5:n.109+6A>G | |
| ENST00000360790.9:c.109+6A>G | ENSP00000354024.5:n.109+6A>G | |
| ENST00000399721.6:c.109+6A>G | ENSP00000382627.2:n.109+6A>G | |
| ENST00000399722.6:c.109+6A>G | ENSP00000382628.2:n.109+6A>G | |
| ENST00000399725.6:c.109+6A>G | ENSP00000382630.2:n.109+6A>G | |
| ENST00000579124.5:c.109+6A>G | ENSP00000462390.1:n.109+6A>G | |
| ENST00000581819.5:c.109+6A>G | ENSP00000463439.1:n.109+6A>G | |
| ENST00000582354.5:c.109+6A>G | ENSP00000463738.1:n.109+6A>G | |
| ENST00000583594.4:n.486+6A>G | ||
| NM_002894.2:c.109+6A>G | NP_002885.1:n.109+6A>G | |
| NM_203291.1:c.109+6A>G | NP_976036.1:n.109+6A>G | |
| NM_203292.1:c.109+6A>G | NP_976037.1:n.109+6A>G | |
| XM_005258325.1:c.109+6A>G | XP_005258382.1:n.109+6A>G | |
| XM_006722519.1:c.109+6A>G | XP_006722582.1:n.109+6A>G | |
| XM_006722520.1:c.109+6A>G | XP_006722583.1:n.109+6A>G | |
| XM_006722521.1:c.109+6A>G | XP_006722584.1:n.109+6A>G | |
| XM_011526132.1:c.109+6A>G | XP_011524434.1:n.109+6A>G | |
| XM_005258325.3:c.109+6A>G | XP_005258382.1:n.109+6A>G | |
| XM_005258326.4:c.-808+6A>G | XP_005258383.1:n.-808+6A>G | |
| XM_006722519.2:c.109+6A>G | XP_006722582.1:n.109+6A>G | |
| XM_006722520.2:c.109+6A>G | XP_006722583.1:n.109+6A>G | |
| XM_006722521.2:c.109+6A>G | XP_006722584.1:n.109+6A>G | |
| XM_011526132.2:c.109+6A>G | XP_011524434.1:n.109+6A>G | |
| XM_017025916.1:c.-874+6A>G | XP_016881405.1:n.-874+6A>G | |
| XM_024451233.1:c.-252+6A>G | XP_024307001.1:n.-252+6A>G | |
| NM_002894.3:c.109+6A>G MANE Select | NP_002885.1:n.109+6A>G | |
| NM_203291.2:c.109+6A>G | NP_976036.1:n.109+6A>G | |
| NM_203292.2:c.109+6A>G | NP_976037.1:n.109+6A>G |