Linked Data
dbSNP Id:
rs13429458
gnomAD v2:
2-43638838-A-C
gnomAD v3:
2-43411699-A-C
gnomAD v4:
2-43411699-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43411699A>C , CM000664.2:g.43411699A>C | GRCh38 |
| NC_000002.11:g.43638838A>C , CM000664.1:g.43638838A>C | GRCh37 |
| NC_000002.10:g.43492342A>C | NCBI36 |
| NG_051580.1:g.189348T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000405975.7:c.4059-13560T>G MANE Select | ENSP00000386088.2:n.4059-13560T>G | |
| ENST00000398653.5:c.*2975-13560T>G | ENSP00000381647.1:n.*2975-13560T>G | |
| ENST00000402796.5:c.2465-13560T>G | ENSP00000385003.1:n.2465-13560T>G | |
| ENST00000405006.8:c.4059-13560T>G | ENSP00000385995.4:n.4059-13560T>G | |
| ENST00000405975.6:c.4059-13560T>G | ENSP00000386088.2:n.4059-13560T>G | |
| ENST00000407351.5:c.1778-13560T>G | ||
| ENST00000408045.7:c.*3154-13560T>G | ENSP00000384172.2:n.*3154-13560T>G | |
| ENST00000485353.5:n.449-13560T>G | ||
| NM_001083953.1:c.4059-13560T>G | NP_001077422.1:n.4059-13560T>G | |
| NM_022065.4:c.4059-13560T>G | NP_071348.3:n.4059-13560T>G | |
| NR_073394.1:n.4009-13560T>G | ||
| XM_006712061.2:c.4059-13560T>G | XP_006712124.1:n.4059-13560T>G | |
| XM_006712062.1:c.4056-13560T>G | XP_006712125.1:n.4056-13560T>G | |
| XM_006712063.1:c.3939-13560T>G | XP_006712126.1:n.3939-13560T>G | |
| XM_006712064.1:c.4059-13560T>G | XP_006712127.1:n.4059-13560T>G | |
| XM_006712065.1:c.3837-13560T>G | XP_006712128.1:n.3837-13560T>G | |
| XM_006712066.1:c.3696-13560T>G | XP_006712129.1:n.3696-13560T>G | |
| XM_006712067.1:c.3693-13560T>G | XP_006712130.1:n.3693-13560T>G | |
| XM_006712068.2:c.4059-13560T>G | XP_006712131.1:n.4059-13560T>G | |
| XM_006712069.2:c.1608-13560T>G | XP_006712132.1:n.1608-13560T>G | |
| XM_011533016.1:c.1371-13560T>G | XP_011531318.1:n.1371-13560T>G | |
| NM_001345923.1:c.4056-13560T>G | NP_001332852.1:n.4056-13560T>G | |
| NM_001345924.1:c.3936-13560T>G | NP_001332853.1:n.3936-13560T>G | |
| NM_001345925.1:c.4059-13560T>G | NP_001332854.1:n.4059-13560T>G | |
| NR_144316.1:n.4199-13560T>G | ||
| XM_006712064.2:c.4059-13560T>G | XP_006712127.1:n.4059-13560T>G | |
| XM_006712068.3:c.4059-13560T>G | XP_006712131.1:n.4059-13560T>G | |
| XM_006712069.3:c.1608-13560T>G | XP_006712132.1:n.1608-13560T>G | |
| XM_017004675.1:c.1371-13560T>G | XP_016860164.1:n.1371-13560T>G | |
| NM_001083953.2:c.4059-13560T>G | NP_001077422.1:n.4059-13560T>G | |
| NM_001345923.2:c.4056-13560T>G | NP_001332852.1:n.4056-13560T>G | |
| NM_001345924.2:c.3936-13560T>G | NP_001332853.1:n.3936-13560T>G | |
| NM_001345925.2:c.4059-13560T>G | NP_001332854.1:n.4059-13560T>G | |
| NM_022065.5:c.4059-13560T>G MANE Select | NP_071348.3:n.4059-13560T>G | |
| NR_073394.2:n.4001-13560T>G | ||
| NR_144316.2:n.4191-13560T>G |