Linked Data
dbSNP Id:
rs545491116
gnomAD v2:
22-42031877-T-G
gnomAD v3:
22-41635873-T-G
gnomAD v4:
22-41635873-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.41635873T>G , CM000684.2:g.41635873T>G | GRCh38 |
| NC_000022.10:g.42031877T>G , CM000684.1:g.42031877T>G | GRCh37 |
| NC_000022.9:g.40361823T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360079.8:c.196-240T>G MANE Select | ENSP00000353192.3:n.196-240T>G | |
| ENST00000359308.8:c.196-240T>G | ENSP00000352257.4:n.196-240T>G | |
| ENST00000360079.7:c.196-240T>G | ENSP00000353192.3:n.196-240T>G | |
| ENST00000402580.7:c.196-363T>G | ENSP00000384941.3:n.196-363T>G | |
| ENST00000405506.2:c.46-240T>G | ENSP00000384082.1:n.46-240T>G | |
| ENST00000405878.5:c.196-240T>G | ENSP00000384257.1:n.196-240T>G | |
| ENST00000428575.6:c.46-240T>G | ENSP00000403679.3:n.46-240T>G | |
| NM_001288976.1:c.196-240T>G | NP_001275905.1:n.196-240T>G | |
| NM_001288977.1:c.196-363T>G | NP_001275906.1:n.196-363T>G | |
| NM_001288978.1:c.46-240T>G | NP_001275907.1:n.46-240T>G | |
| NM_001469.4:c.196-240T>G | NP_001460.1:n.196-240T>G | |
| NM_001288976.2:c.196-240T>G | NP_001275905.1:n.196-240T>G | |
| NM_001288977.2:c.196-363T>G | NP_001275906.1:n.196-363T>G | |
| NM_001469.5:c.196-240T>G MANE Select | NP_001460.1:n.196-240T>G | |
| NM_001288978.2:c.46-240T>G | NP_001275907.1:n.46-240T>G |