Linked Data
dbSNP Id:
rs3743125
ExAC:
15:39887848 G / A
gnomAD v2:
15-39887848-G-A
gnomAD v3:
15-39595647-G-A
gnomAD v4:
15-39595647-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.39595647G>A , CM000677.2:g.39595647G>A | GRCh38 |
| NC_000015.9:g.39887848G>A , CM000677.1:g.39887848G>A | GRCh37 |
| NC_000015.8:g.37675140G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260356.6:c.*278G>A (THBS1) MANE Select | ENSP00000260356.5:n.*278G>A | |
| ENST00000560769.2:c.83-1414C>T (FSIP1) | ||
| ENST00000642527.1:c.592-1414C>T (FSIP1) | ||
| ENST00000260356.5:c.*278G>A (THBS1) | ENSP00000260356.5:n.*278G>A | |
| NM_003246.2:c.*278G>A (THBS1) | NP_003237.2:n.*278G>A | |
| NM_003246.3:c.*278G>A (THBS1) | NP_003237.2:n.*278G>A | |
| XM_011521970.1:c.*278G>A (THBS1) | XP_011520272.1:n.*278G>A | |
| XM_011521971.1:c.*278G>A (THBS1) | XP_011520273.1:n.*278G>A | |
| XM_011521971.2:c.*278G>A (THBS1) | XP_011520273.1:n.*278G>A | |
| NM_003246.4:c.*278G>A (THBS1) MANE Select | NP_003237.2:n.*278G>A |