Linked Data
dbSNP Id:
rs547694973
gnomAD v2:
2-170010763-C-T
gnomAD v3:
2-169154253-C-T
gnomAD v4:
2-169154253-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.169154253C>T , CM000664.2:g.169154253C>T | GRCh38 |
| NC_000002.11:g.170010763C>T , CM000664.1:g.170010763C>T | GRCh37 |
| NC_000002.10:g.169719009C>T | NCBI36 |
| NG_012634.1:g.213360G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649046.1:c.12295+207G>A MANE Select | ENSP00000496870.1:n.12295+207G>A | |
| ENST00000649153.1:c.3195+207G>A | ||
| ENST00000650252.1:c.1323+207G>A | ENSP00000496887.1:n.1323+207G>A | |
| ENST00000263816.7:c.12295+207G>A | ENSP00000263816.3:n.12295+207G>A | |
| NM_004525.2:c.12295+207G>A | NP_004516.2:n.12295+207G>A | |
| XM_011511183.1:c.12166+207G>A | XP_011509485.1:n.12166+207G>A | |
| XM_011511184.1:c.10006+207G>A | XP_011509486.1:n.10006+207G>A | |
| NM_004525.3:c.12295+207G>A MANE Select | NP_004516.2:n.12295+207G>A | |
| XM_011511183.3:c.12166+207G>A | XP_011509485.1:n.12166+207G>A | |
| XM_011511184.2:c.10006+207G>A | XP_011509486.1:n.10006+207G>A |