Linked Data
ClinVar Variation Id:
3212987
ClinVar RCV Id:
RCV004505890
dbSNP Id:
rs554609969
ExAC:
19:18266975 C / G
gnomAD v2:
19-18266975-C-G
gnomAD v3:
19-18156165-C-G
gnomAD v4:
19-18156165-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18156165C>G , CM000681.2:g.18156165C>G | GRCh38 |
| NC_000019.9:g.18266975C>G , CM000681.1:g.18266975C>G | GRCh37 |
| NC_000019.8:g.18127975C>G | NCBI36 |
| NG_033010.1:g.7988C>G | |
| NG_033010.2:g.7988C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222254.13:c.286C>G MANE Select | ENSP00000222254.6:p.Leu96Val | |
| ENST00000617130.5:c.286C>G | ENSP00000477864.2:p.Leu96Val | |
| ENST00000617642.2:c.286C>G | ENSP00000484714.2:p.Leu96Val | |
| ENST00000222254.12:c.286C>G | ENSP00000222254.6:p.Leu96Val | |
| ENST00000426902.5:c.286C>G | ENSP00000395636.1:p.Leu96Val | |
| ENST00000593731.1:c.286C>G | ENSP00000471914.1:p.Leu96Val | |
| ENST00000617130.4:c.286C>G | ENSP00000477864.1:p.Leu96Val | |
| ENST00000617642.1:c.286C>G | ENSP00000484714.1:p.Leu96Val | |
| NM_005027.3:c.286C>G | NP_005018.1:p.Leu96Val | |
| NR_073517.1:n.826C>G | ||
| NM_005027.4:c.286C>G MANE Select | NP_005018.2:p.Leu96Val | |
| NR_073517.2:n.841C>G | ||
| NR_162071.1:n.841C>G |