Linked Data
dbSNP Id:
rs145539372
ExAC:
15:89424588 C / A
gnomAD v2:
15-89424588-C-A
gnomAD v3:
15-88881357-C-A
gnomAD v4:
15-88881357-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.88881357C>A , CM000677.2:g.88881357C>A | GRCh38 |
| NC_000015.9:g.89424588C>A , CM000677.1:g.89424588C>A | GRCh37 |
| NC_000015.8:g.87225592C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359595.8:c.493G>T MANE Select | ENSP00000352606.4:p.Gly165Cys | |
| ENST00000359595.7:c.493G>T | ENSP00000352606.3:p.Gly165Cys | |
| ENST00000558770.5:c.493G>T | ENSP00000456458.1:p.Gly165Ter | |
| ENST00000562281.1:c.493G>T | ENSP00000456985.1:p.Ala165Ser | |
| ENST00000562889.5:c.679G>T | ENSP00000457180.1:p.Gly227Cys | |
| ENST00000563808.1:n.595G>T | ||
| NM_001307952.1:c.679G>T | NP_001294881.1:p.Gly227Cys | |
| NM_178232.2:c.493G>T | NP_839946.1:p.Gly165Cys | |
| NM_178232.3:c.493G>T | NP_839946.1:p.Gly165Cys | |
| XM_011521261.1:c.625G>T | XP_011519563.1:p.Gly209Cys | |
| XR_243204.1:n.708G>T | ||
| XR_931756.1:n.814G>T | ||
| XM_017021934.2:c.679G>T | XP_016877423.1:p.Gly227Trp | |
| XM_017021935.2:c.114G>T | XP_016877424.1:p.Gly38= | |
| XM_017021936.2:c.114G>T | XP_016877425.1:p.Gly38= | |
| XR_001751098.2:n.826G>T | ||
| XR_931756.3:n.827G>T | ||
| NM_001307952.2:c.679G>T | NP_001294881.1:p.Gly227Cys | |
| NM_178232.4:c.493G>T MANE Select | NP_839946.1:p.Gly165Cys |