Linked Data
dbSNP Id:
rs2255327
gnomAD v2:
8-11409992-C-T
gnomAD v3:
8-11552483-C-T
gnomAD v4:
8-11552483-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.11552483C>T , CM000670.2:g.11552483C>T | GRCh38 |
| NC_000008.10:g.11409992C>T , CM000670.1:g.11409992C>T | GRCh37 |
| NC_000008.9:g.11447401C>T | NCBI36 |
| NG_023543.1:g.63472C>T | |
| NG_023543.2:g.63472C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696154.2:n.623+2221C>T | ||
| ENST00000696154.1:c.259+2221C>T | ENSP00000512445.1:n.259+2221C>T | |
| ENST00000259089.9:c.472+2221C>T MANE Select | ENSP00000259089.4:n.472+2221C>T | |
| ENST00000645242.1:c.259+2221C>T | ENSP00000494690.1:n.259+2221C>T | |
| ENST00000259089.8:c.472+2221C>T | ENSP00000259089.4:n.472+2221C>T | |
| ENST00000526778.1:n.269+2221C>T | ||
| ENST00000529894.1:c.259+2221C>T | ENSP00000433663.1:n.259+2221C>T | |
| NM_001715.2:c.472+2221C>T | NP_001706.2:n.472+2221C>T | |
| XM_011543824.1:c.472+2221C>T | XP_011542126.1:n.472+2221C>T | |
| XM_011543825.1:c.472+2221C>T | XP_011542127.1:n.472+2221C>T | |
| XM_011543826.1:c.472+2221C>T | XP_011542128.1:n.472+2221C>T | |
| XM_011543827.1:c.259+2221C>T | XP_011542129.1:n.259+2221C>T | |
| XM_011543828.1:c.472+2221C>T | XP_011542130.1:n.472+2221C>T | |
| XM_011543829.1:c.472+2221C>T | XP_011542131.1:n.472+2221C>T | |
| NM_001330465.1:c.259+2221C>T | NP_001317394.1:n.259+2221C>T | |
| XM_011543825.3:c.472+2221C>T | XP_011542127.1:n.472+2221C>T | |
| XM_011543828.3:c.472+2221C>T | XP_011542130.1:n.472+2221C>T | |
| XM_011543829.3:c.472+2221C>T | XP_011542131.1:n.472+2221C>T | |
| NM_001715.3:c.472+2221C>T MANE Select | NP_001706.2:n.472+2221C>T | |
| NM_001330465.2:c.259+2221C>T | NP_001317394.1:n.259+2221C>T |