Linked Data
dbSNP Id:
rs377712240
ExAC:
1:46715835 C / T
gnomAD v2:
1-46715835-C-T
gnomAD v3:
1-46250163-C-T
gnomAD v4:
1-46250163-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.46250163C>T , CM000663.2:g.46250163C>T | GRCh38 |
| NC_000001.10:g.46715835C>T , CM000663.1:g.46715835C>T | GRCh37 |
| NC_000001.9:g.46488422C>T | NCBI36 |
| NG_012144.1:g.7469C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371975.9:c.210+44C>T MANE Select | ENSP00000361043.4:n.210+44C>T | |
| ENST00000469835.6:c.210+44C>T | ENSP00000477172.2:n.210+44C>T | |
| ENST00000655446.1:c.210+44C>T | ENSP00000499451.1:n.210+44C>T | |
| ENST00000657122.1:c.*112+44C>T | ENSP00000499519.1:n.*112+44C>T | |
| ENST00000669994.1:c.210+44C>T | ENSP00000499311.1:n.210+44C>T | |
| ENST00000671528.1:c.210+44C>T | ENSP00000499652.1:n.210+44C>T | |
| ENST00000371975.8:c.210+44C>T | ENSP00000361043.4:n.210+44C>T | |
| ENST00000442598.5:c.210+44C>T | ENSP00000396113.1:n.210+44C>T | |
| ENST00000463715.5:c.-363+44C>T | ENSP00000480207.1:n.-363+44C>T | |
| ENST00000469835.5:c.210+44C>T | ENSP00000477172.1:n.210+44C>T | |
| ENST00000487700.1:n.207+44C>T | ||
| ENST00000493032.5:c.-195+44C>T | ENSP00000479995.1:n.-195+44C>T | |
| ENST00000493985.5:c.-331+44C>T | ENSP00000479823.1:n.-331+44C>T | |
| NM_001142548.1:c.210+44C>T | NP_001136020.1:n.210+44C>T | |
| NM_003579.3:c.210+44C>T | NP_003570.2:n.210+44C>T | |
| XM_006710975.2:c.-331+44C>T | XP_006711038.1:n.-331+44C>T | |
| XM_006710975.3:c.-331+44C>T | XP_006711038.1:n.-331+44C>T | |
| NM_003579.4:c.210+44C>T MANE Select | NP_003570.2:n.210+44C>T | |
| NM_001370766.1:c.-331+44C>T | NP_001357695.1:n.-331+44C>T | |
| NM_001142548.2:c.210+44C>T | NP_001136020.1:n.210+44C>T |