Linked Data
ClinVar Variation Id:
915191
ClinVar RCV Id:
RCV001169704
dbSNP Id:
rs773334784
ExAC:
9:104189818 G / C
gnomAD v2:
9-104189818-G-C
gnomAD v3:
9-101427536-G-C
gnomAD v4:
9-101427536-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101427536G>C , CM000671.2:g.101427536G>C | GRCh38 |
| NC_000009.11:g.104189818G>C , CM000671.1:g.104189818G>C | GRCh37 |
| NC_000009.10:g.103229639G>C | NCBI36 |
| NG_012387.1:g.13245C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647789.2:c.486C>G MANE Select | ENSP00000497767.1:p.Leu162= | |
| ENST00000648064.1:c.486C>G | ENSP00000497990.1:p.Leu162= | |
| ENST00000648758.1:c.486C>G | ENSP00000497731.1:p.Leu162= | |
| ENST00000649902.1:c.486C>G | ENSP00000497216.1:p.Leu162= | |
| ENST00000374855.8:c.486C>G | ENSP00000363988.4:p.Leu162= | |
| ENST00000468981.3:n.68-898C>G | ||
| ENST00000616752.1:c.486C>G | ENSP00000481363.1:p.Leu162= | |
| NM_000035.3:c.486C>G | NP_000026.2:p.Leu162= | |
| NM_000035.4:c.486C>G MANE Select | NP_000026.2:p.Leu162= |