Linked Data
ClinVar Variation Id:
2161927
ClinVar RCV Id:
RCV003078818
dbSNP Id:
rs771092366
ExAC:
9:104187811 G / C
gnomAD v2:
9-104187811-G-C
gnomAD v3:
9-101425529-G-C
gnomAD v4:
9-101425529-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101425529G>C , CM000671.2:g.101425529G>C | GRCh38 |
| NC_000009.11:g.104187811G>C , CM000671.1:g.104187811G>C | GRCh37 |
| NC_000009.10:g.103227632G>C | NCBI36 |
| NG_012387.1:g.15252C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647789.2:c.723C>G MANE Select | ENSP00000497767.1:p.Thr241= | |
| ENST00000648064.1:c.723C>G | ENSP00000497990.1:p.Thr241= | |
| ENST00000648758.1:c.723C>G | ENSP00000497731.1:p.Thr241= | |
| ENST00000649902.1:c.723C>G | ENSP00000497216.1:p.Thr241= | |
| ENST00000374855.8:c.723C>G | ENSP00000363988.4:p.Thr241= | |
| ENST00000616752.1:c.723C>G | ENSP00000481363.1:p.Thr241= | |
| NM_000035.3:c.723C>G | NP_000026.2:p.Thr241= | |
| NM_000035.4:c.723C>G MANE Select | NP_000026.2:p.Thr241= |