Linked Data
dbSNP Id:
rs7590268
gnomAD v2:
2-43540125-T-G
gnomAD v3:
2-43312986-T-G
gnomAD v4:
2-43312986-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43312986T>G , CM000664.2:g.43312986T>G | GRCh38 |
| NC_000002.11:g.43540125T>G , CM000664.1:g.43540125T>G | GRCh37 |
| NC_000002.10:g.43393629T>G | NCBI36 |
| NG_051580.1:g.288061A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405975.7:c.4438+7460A>C MANE Select | ENSP00000386088.2:n.4438+7460A>C | |
| ENST00000398653.5:c.*3354+7460A>C | ENSP00000381647.1:n.*3354+7460A>C | |
| ENST00000405006.8:c.4438+7460A>C | ENSP00000385995.4:n.4438+7460A>C | |
| ENST00000405975.6:c.4438+7460A>C | ENSP00000386088.2:n.4438+7460A>C | |
| ENST00000407351.5:c.2157+7460A>C | ||
| ENST00000486735.5:n.342+7460A>C | ||
| NM_001083953.1:c.4438+7460A>C | NP_001077422.1:n.4438+7460A>C | |
| NM_022065.4:c.4438+7460A>C | NP_071348.3:n.4438+7460A>C | |
| NR_073394.1:n.4388+7460A>C | ||
| XM_006712061.2:c.4438+7460A>C | XP_006712124.1:n.4438+7460A>C | |
| XM_006712062.1:c.4435+7460A>C | XP_006712125.1:n.4435+7460A>C | |
| XM_006712063.1:c.4318+7460A>C | XP_006712126.1:n.4318+7460A>C | |
| XM_006712064.1:c.4438+7460A>C | XP_006712127.1:n.4438+7460A>C | |
| XM_006712065.1:c.4216+7460A>C | XP_006712128.1:n.4216+7460A>C | |
| XM_006712066.1:c.4075+7460A>C | XP_006712129.1:n.4075+7460A>C | |
| XM_006712067.1:c.4072+7460A>C | XP_006712130.1:n.4072+7460A>C | |
| XM_006712069.2:c.1987+7460A>C | XP_006712132.1:n.1987+7460A>C | |
| XM_011533016.1:c.1750+7460A>C | XP_011531318.1:n.1750+7460A>C | |
| NM_001345923.1:c.4435+7460A>C | NP_001332852.1:n.4435+7460A>C | |
| NM_001345924.1:c.4315+7460A>C | NP_001332853.1:n.4315+7460A>C | |
| NM_001345925.1:c.4438+7460A>C | NP_001332854.1:n.4438+7460A>C | |
| NR_144316.1:n.4462+7460A>C | ||
| XM_006712064.2:c.4438+7460A>C | XP_006712127.1:n.4438+7460A>C | |
| XM_006712069.3:c.1987+7460A>C | XP_006712132.1:n.1987+7460A>C | |
| XM_017004675.1:c.1750+7460A>C | XP_016860164.1:n.1750+7460A>C | |
| NM_001083953.2:c.4438+7460A>C | NP_001077422.1:n.4438+7460A>C | |
| NM_001345923.2:c.4435+7460A>C | NP_001332852.1:n.4435+7460A>C | |
| NM_001345924.2:c.4315+7460A>C | NP_001332853.1:n.4315+7460A>C | |
| NM_001345925.2:c.4438+7460A>C | NP_001332854.1:n.4438+7460A>C | |
| NM_022065.5:c.4438+7460A>C MANE Select | NP_071348.3:n.4438+7460A>C | |
| NR_073394.2:n.4380+7460A>C | ||
| NR_144316.2:n.4454+7460A>C |