Linked Data
dbSNP Id:
rs1027139907
gnomAD v2:
9-111815401-G-C
gnomAD v3:
9-109053121-G-C
gnomAD v4:
9-109053121-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.109053121G>C , CM000671.2:g.109053121G>C | GRCh38 |
| NC_000009.11:g.111815401G>C , CM000671.1:g.111815401G>C | GRCh37 |
| NC_000009.10:g.110855222G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000413712.7:c.1831-2429C>G | ENSP00000394798.3:n.1831-2429C>G | |
| ENST00000374586.8:c.1855-2429C>G MANE Select | ENSP00000363714.3:n.1855-2429C>G | |
| ENST00000374586.7:c.1855-2429C>G | ENSP00000363714.3:n.1855-2429C>G | |
| ENST00000413712.6:c.632-2429C>G | ||
| ENST00000491854.1:c.*427-2429C>G | ENSP00000417842.1:n.*427-2429C>G | |
| NM_032012.3:c.1855-2429C>G | NP_114401.2:n.1855-2429C>G | |
| XM_011518446.1:c.1852-2429C>G | XP_011516748.1:n.1852-2429C>G | |
| XM_011518447.1:c.1831-2429C>G | XP_011516749.1:n.1831-2429C>G | |
| XM_011518448.1:c.1750-2429C>G | XP_011516750.1:n.1750-2429C>G | |
| XM_011518449.1:c.1738-2429C>G | XP_011516751.1:n.1738-2429C>G | |
| XM_011518450.1:c.1735-2429C>G | XP_011516752.1:n.1735-2429C>G | |
| XM_011518451.1:c.1726-2429C>G | XP_011516753.1:n.1726-2429C>G | |
| XM_011518452.1:c.1621-2429C>G | XP_011516754.1:n.1621-2429C>G | |
| XR_930240.1:n.1392-21172G>C | ||
| XM_011518446.2:c.1852-2429C>G | XP_011516748.1:n.1852-2429C>G | |
| XM_011518449.2:c.1738-2429C>G | XP_011516751.1:n.1738-2429C>G | |
| XM_011518452.2:c.1621-2429C>G | XP_011516754.1:n.1621-2429C>G | |
| XM_017014571.1:c.1828-2429C>G | XP_016870060.1:n.1828-2429C>G | |
| XM_017014572.1:c.1597-2429C>G | XP_016870061.1:n.1597-2429C>G | |
| NM_032012.4:c.1855-2429C>G MANE Select | NP_114401.2:n.1855-2429C>G |