Linked Data
dbSNP Id:
rs1390243307
gnomAD v2:
10-63779939-C-T
gnomAD v3:
10-62020180-C-T
gnomAD v4:
10-62020180-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.62020180C>T , CM000672.2:g.62020180C>T | GRCh38 |
| NC_000010.10:g.63779939C>T , CM000672.1:g.63779939C>T | GRCh37 |
| NC_000010.9:g.63449945C>T | NCBI36 |
| NG_030027.1:g.123927C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000279873.12:c.733+19859C>T MANE Select | ENSP00000279873.7:n.733+19859C>T | |
| ENST00000644638.1:c.734-4493C>T | ENSP00000494412.1:n.734-4493C>T | |
| ENST00000681100.1:c.733+19859C>T | ENSP00000506119.1:n.733+19859C>T | |
| ENST00000279873.11:c.733+19859C>T | ENSP00000279873.7:n.733+19859C>T | |
| NM_032199.2:c.733+19859C>T | NP_115575.1:n.733+19859C>T | |
| XM_011540262.1:c.503-30708C>T | XP_011538564.1:n.503-30708C>T | |
| XM_024448230.1:c.166+19859C>T | XP_024303998.1:n.166+19859C>T | |
| NM_032199.3:c.733+19859C>T MANE Select | NP_115575.1:n.733+19859C>T |