Linked Data
dbSNP Id:
rs767362906
ExAC:
2:170010963 T / C
gnomAD v2:
2-170010963-T-C
gnomAD v4:
2-169154453-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.169154453T>C , CM000664.2:g.169154453T>C | GRCh38 |
| NC_000002.11:g.170010963T>C , CM000664.1:g.170010963T>C | GRCh37 |
| NC_000002.10:g.169719209T>C | NCBI36 |
| NG_012634.1:g.213160A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000649046.1:c.12295+7A>G MANE Select | ENSP00000496870.1:n.12295+7A>G | |
| ENST00000649153.1:c.3195+7A>G | ||
| ENST00000650252.1:c.1323+7A>G | ENSP00000496887.1:n.1323+7A>G | |
| ENST00000263816.7:c.12295+7A>G | ENSP00000263816.3:n.12295+7A>G | |
| NM_004525.2:c.12295+7A>G | NP_004516.2:n.12295+7A>G | |
| XM_011511183.1:c.12166+7A>G | XP_011509485.1:n.12166+7A>G | |
| XM_011511184.1:c.10006+7A>G | XP_011509486.1:n.10006+7A>G | |
| NM_004525.3:c.12295+7A>G MANE Select | NP_004516.2:n.12295+7A>G | |
| XM_011511183.3:c.12166+7A>G | XP_011509485.1:n.12166+7A>G | |
| XM_011511184.2:c.10006+7A>G | XP_011509486.1:n.10006+7A>G |