Linked Data
dbSNP Id:
rs79368524
gnomAD v2:
2-170115421-T-A
gnomAD v3:
2-169258911-T-A
gnomAD v4:
2-169258911-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.169258911T>A , CM000664.2:g.169258911T>A | GRCh38 |
| NC_000002.11:g.170115421T>A , CM000664.1:g.170115421T>A | GRCh37 |
| NC_000002.10:g.169823667T>A | NCBI36 |
| NG_012634.1:g.108702A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649046.1:c.2513+114A>T MANE Select | ENSP00000496870.1:n.2513+114A>T | |
| ENST00000263816.7:c.2513+114A>T | ENSP00000263816.3:n.2513+114A>T | |
| ENST00000443831.1:c.2102+114A>T | ENSP00000409813.1:n.2102+114A>T | |
| NM_004525.2:c.2513+114A>T | NP_004516.2:n.2513+114A>T | |
| XM_011511183.1:c.2513+114A>T | XP_011509485.1:n.2513+114A>T | |
| XM_011511184.1:c.224+114A>T | XP_011509486.1:n.224+114A>T | |
| XM_011511185.1:c.2513+114A>T | XP_011509487.1:n.2513+114A>T | |
| NM_004525.3:c.2513+114A>T MANE Select | NP_004516.2:n.2513+114A>T | |
| XM_011511183.3:c.2513+114A>T | XP_011509485.1:n.2513+114A>T | |
| XM_011511184.2:c.224+114A>T | XP_011509486.1:n.224+114A>T |