Linked Data
dbSNP Id:
rs1465618
gnomAD v2:
2-43553949-T-C
gnomAD v3:
2-43326810-T-C
gnomAD v4:
2-43326810-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43326810T>C , CM000664.2:g.43326810T>C | GRCh38 |
| NC_000002.11:g.43553949T>C , CM000664.1:g.43553949T>C | GRCh37 |
| NC_000002.10:g.43407453T>C | NCBI36 |
| NG_051580.1:g.274237A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000405975.7:c.4344-6270A>G MANE Select | ENSP00000386088.2:n.4344-6270A>G | |
| ENST00000398653.5:c.*3260-6270A>G | ENSP00000381647.1:n.*3260-6270A>G | |
| ENST00000405006.8:c.4344-6270A>G | ENSP00000385995.4:n.4344-6270A>G | |
| ENST00000405975.6:c.4344-6270A>G | ENSP00000386088.2:n.4344-6270A>G | |
| ENST00000407351.5:c.2063-6270A>G | ||
| ENST00000486735.5:n.248-6270A>G | ||
| NM_001083953.1:c.4344-6270A>G | NP_001077422.1:n.4344-6270A>G | |
| NM_022065.4:c.4344-6270A>G | NP_071348.3:n.4344-6270A>G | |
| NR_073394.1:n.4294-6270A>G | ||
| XM_006712061.2:c.4344-6270A>G | XP_006712124.1:n.4344-6270A>G | |
| XM_006712062.1:c.4341-6270A>G | XP_006712125.1:n.4341-6270A>G | |
| XM_006712063.1:c.4224-6270A>G | XP_006712126.1:n.4224-6270A>G | |
| XM_006712064.1:c.4344-6270A>G | XP_006712127.1:n.4344-6270A>G | |
| XM_006712065.1:c.4122-6270A>G | XP_006712128.1:n.4122-6270A>G | |
| XM_006712066.1:c.3981-6270A>G | XP_006712129.1:n.3981-6270A>G | |
| XM_006712067.1:c.3978-6270A>G | XP_006712130.1:n.3978-6270A>G | |
| XM_006712069.2:c.1893-6270A>G | XP_006712132.1:n.1893-6270A>G | |
| XM_011533016.1:c.1656-6270A>G | XP_011531318.1:n.1656-6270A>G | |
| NM_001345923.1:c.4341-6270A>G | NP_001332852.1:n.4341-6270A>G | |
| NM_001345924.1:c.4221-6270A>G | NP_001332853.1:n.4221-6270A>G | |
| NM_001345925.1:c.4344-6270A>G | NP_001332854.1:n.4344-6270A>G | |
| NR_144316.1:n.4368-6270A>G | ||
| XM_006712064.2:c.4344-6270A>G | XP_006712127.1:n.4344-6270A>G | |
| XM_006712069.3:c.1893-6270A>G | XP_006712132.1:n.1893-6270A>G | |
| XM_017004675.1:c.1656-6270A>G | XP_016860164.1:n.1656-6270A>G | |
| NM_001083953.2:c.4344-6270A>G | NP_001077422.1:n.4344-6270A>G | |
| NM_001345923.2:c.4341-6270A>G | NP_001332852.1:n.4341-6270A>G | |
| NM_001345924.2:c.4221-6270A>G | NP_001332853.1:n.4221-6270A>G | |
| NM_001345925.2:c.4344-6270A>G | NP_001332854.1:n.4344-6270A>G | |
| NM_022065.5:c.4344-6270A>G MANE Select | NP_071348.3:n.4344-6270A>G | |
| NR_073394.2:n.4286-6270A>G | ||
| NR_144316.2:n.4360-6270A>G |