Linked Data
dbSNP Id:
rs760242665
ExAC:
15:89424610 A / G
gnomAD v2:
15-89424610-A-G
gnomAD v4:
15-88881379-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.88881379A>G , CM000677.2:g.88881379A>G | GRCh38 |
| NC_000015.9:g.89424610A>G , CM000677.1:g.89424610A>G | GRCh37 |
| NC_000015.8:g.87225614A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359595.8:c.471T>C MANE Select | ENSP00000352606.4:p.Gly157= | |
| ENST00000359595.7:c.471T>C | ENSP00000352606.3:p.Gly157= | |
| ENST00000558770.5:c.471T>C | ENSP00000456458.1:p.Gly157= | |
| ENST00000562281.1:c.471T>C | ENSP00000456985.1:p.Gly157= | |
| ENST00000562889.5:c.657T>C | ENSP00000457180.1:p.Gly219= | |
| ENST00000563808.1:n.573T>C | ||
| NM_001307952.1:c.657T>C | NP_001294881.1:p.Gly219= | |
| NM_178232.2:c.471T>C | NP_839946.1:p.Gly157= | |
| NM_178232.3:c.471T>C | NP_839946.1:p.Gly157= | |
| XM_011521261.1:c.603T>C | XP_011519563.1:p.Gly201= | |
| XR_243204.1:n.686T>C | ||
| XR_931756.1:n.792T>C | ||
| XM_017021934.2:c.657T>C | XP_016877423.1:p.Gly219= | |
| XM_017021935.2:c.92T>C | XP_016877424.1:p.Val31Ala | |
| XM_017021936.2:c.92T>C | XP_016877425.1:p.Val31Ala | |
| XR_001751098.2:n.804T>C | ||
| XR_931756.3:n.805T>C | ||
| NM_001307952.2:c.657T>C | NP_001294881.1:p.Gly219= | |
| NM_178232.4:c.471T>C MANE Select | NP_839946.1:p.Gly157= |