Linked Data
dbSNP Id:
rs372583550
ExAC:
1:12025500 G / T
gnomAD v2:
1-12025500-G-T
gnomAD v4:
1-11965443-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11965443G>T , CM000663.2:g.11965443G>T | GRCh38 |
| NC_000001.10:g.12025500G>T , CM000663.1:g.12025500G>T | GRCh37 |
| NC_000001.9:g.11948087G>T | NCBI36 |
| NG_008159.1:g.35755G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000196061.5:c.1471-37G>T MANE Select | ENSP00000196061.4:n.1471-37G>T | |
| ENST00000196061.4:c.1471-37G>T | ENSP00000196061.4:n.1471-37G>T | |
| ENST00000470133.1:n.85-37G>T | ||
| ENST00000491536.5:n.99-37G>T | ||
| NM_000302.3:c.1471-37G>T | NP_000293.2:n.1471-37G>T | |
| NM_001316320.1:c.1612-37G>T | NP_001303249.1:n.1612-37G>T | |
| XM_011541594.1:c.1552-37G>T | XP_011539896.1:n.1552-37G>T | |
| XM_024447707.1:c.805-37G>T | XP_024303475.1:n.805-37G>T | |
| NM_000302.4:c.1471-37G>T MANE Select | NP_000293.2:n.1471-37G>T | |
| NM_001316320.2:c.1612-37G>T | NP_001303249.1:n.1612-37G>T |