Linked Data
dbSNP Id:
rs773116326
ExAC:
17:26109045 T / C
gnomAD v2:
17-26109045-T-C
gnomAD v3:
17-27782019-T-C
gnomAD v4:
17-27782019-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.27782019T>C , CM000679.2:g.27782019T>C | GRCh38 |
| NC_000017.10:g.26109045T>C , CM000679.1:g.26109045T>C | GRCh37 |
| NC_000017.9:g.23133172T>C | NCBI36 |
| NG_011470.1:g.23511A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000697337.1:c.*164A>G | ENSP00000513259.1:n.*164A>G | |
| ENST00000697338.1:c.566A>G | ENSP00000513260.1:n.566A>G | |
| ENST00000697339.1:c.315+6790A>G | ENSP00000513261.1:n.315+6790A>G | |
| ENST00000697340.1:c.715A>G | ENSP00000513262.1:p.Ile239Val | |
| ENST00000697341.1:n.688A>G | ||
| ENST00000313735.11:c.718A>G MANE Select | ENSP00000327251.6:p.Ile240Val | |
| ENST00000646938.1:c.715A>G | ENSP00000494870.1:p.Ile239Val | |
| ENST00000313735.10:c.718A>G | ENSP00000327251.6:p.Ile240Val | |
| ENST00000621962.1:c.718A>G | ENSP00000482291.1:p.Ile240Val | |
| NM_000625.4:c.718A>G MANE Select | NP_000616.3:p.Ile240Val | |
| XM_011524859.1:c.718A>G | XP_011523161.1:p.Ile240Val | |
| XM_011524860.1:c.715A>G | XP_011523162.1:p.Ile239Val | |
| XM_011524861.1:c.718A>G | XP_011523163.1:p.Ile240Val | |
| XM_011524862.1:c.52A>G | XP_011523164.1:p.Ile18Val |