Linked Data
ClinVar Variation Id:
2723708
ClinVar RCV Id:
RCV003561448
dbSNP Id:
rs374713668
ExAC:
1:36565715 G / A
gnomAD v2:
1-36565715-G-A
gnomAD v3:
1-36100114-G-A
gnomAD v4:
1-36100114-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.36100114G>A , CM000663.2:g.36100114G>A | GRCh38 |
| NC_000001.10:g.36565715G>A , CM000663.1:g.36565715G>A | GRCh37 |
| NC_000001.9:g.36338302G>A | NCBI36 |
| NG_016245.2:g.29971C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397799.2:c.129C>T MANE Select | ENSP00000380901.1:p.Tyr43= | |
| ENST00000303143.9:c.129C>T | ENSP00000305913.4:p.Tyr43= | |
| ENST00000397799.1:c.129C>T | ENSP00000380901.1:p.Tyr43= | |
| ENST00000481785.1:c.-3+81C>T | ENSP00000436433.1:n.-3+81C>T | |
| ENST00000615990.1:c.129C>T | ENSP00000484406.1:p.Tyr43= | |
| NM_001294347.1:c.-3+81C>T | NP_001281276.1:n.-3+81C>T | |
| NM_005202.3:c.129C>T | NP_005193.1:p.Tyr43= | |
| XM_005270477.2:c.360C>T | XP_005270534.1:p.Tyr120= | |
| XM_005270477.3:c.360C>T | XP_005270534.1:p.Tyr120= | |
| NM_005202.4:c.129C>T MANE Select | NP_005193.1:p.Tyr43= | |
| NM_001294347.2:c.-3+81C>T | NP_001281276.1:n.-3+81C>T |