Linked Data
dbSNP Id:
rs2228262
ExAC:
15:39882178 A / G
gnomAD v2:
15-39882178-A-G
gnomAD v3:
15-39589977-A-G
gnomAD v4:
15-39589977-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.39589977A>G , CM000677.2:g.39589977A>G | GRCh38 |
| NC_000015.9:g.39882178A>G , CM000677.1:g.39882178A>G | GRCh37 |
| NC_000015.8:g.37669470A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260356.6:c.2099A>G (THBS1) MANE Select | ENSP00000260356.5:p.Asn700Ser | |
| ENST00000642527.1:c.771-1403T>C (FSIP1) | ||
| ENST00000260356.5:c.2099A>G (THBS1) | ENSP00000260356.5:p.Asn700Ser | |
| NM_003246.2:c.2099A>G (THBS1) | NP_003237.2:p.Asn700Ser | |
| NM_003246.3:c.2099A>G (THBS1) | NP_003237.2:p.Asn700Ser | |
| XM_011521970.1:c.2099A>G (THBS1) | XP_011520272.1:p.Asn700Ser | |
| XM_011521971.1:c.1925A>G (THBS1) | XP_011520273.1:p.Asn642Ser | |
| XR_931897.1:n.2274A>G (THBS1) | ||
| XM_011521971.2:c.1925A>G (THBS1) | XP_011520273.1:p.Asn642Ser | |
| NM_003246.4:c.2099A>G (THBS1) MANE Select | NP_003237.2:p.Asn700Ser |