Linked Data
dbSNP Id:
rs752652736
ExAC:
5:176831344 C / T
gnomAD v2:
5-176831344-C-T
gnomAD v3:
5-177404343-C-T
gnomAD v4:
5-177404343-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177404343C>T , CM000667.2:g.177404343C>T | GRCh38 |
| NC_000005.9:g.176831344C>T , CM000667.1:g.176831344C>T | GRCh37 |
| NC_000005.8:g.176763950C>T | NCBI36 |
| NG_007568.1:g.10234G>A , LRG_145:g.10234G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696192.1:c.*537G>A (F12) | ENSP00000512476.1:n.*537G>A | |
| ENST00000696193.1:c.*1241G>A (F12) | ENSP00000512477.1:n.*1241G>A | |
| ENST00000696194.1:c.*461G>A (F12) | ENSP00000512478.1:n.*461G>A | |
| ENST00000696195.1:n.3674G>A (F12) | ||
| ENST00000696200.1:n.974G>A (F12) | ||
| ENST00000696201.1:c.871G>A (F12) | ENSP00000512482.1:p.Asp291Asn | |
| ENST00000253496.4:c.871G>A (F12) MANE Select | ENSP00000253496.3:p.Asp291Asn | |
| ENST00000253496.3:c.871G>A (F12) | ENSP00000253496.3:p.Asp291Asn | |
| ENST00000502598.5:c.-45+817C>T (GRK6) | ENSP00000422873.1:n.-45+817C>T | |
| ENST00000502854.5:n.130G>A (F12) | ||
| ENST00000503736.1:n.243G>A (F12) | ||
| ENST00000510358.5:n.130G>A (F12) | ||
| NM_000505.3:c.871G>A , LRG_145t1:c.871G>A (F12) | NP_000496.2:p.Asp291Asn | |
| XM_011534461.1:c.871G>A (F12) | XP_011532763.1:p.Asp291Asn | |
| XM_011534462.1:c.535G>A (F12) | XP_011532764.1:p.Asp179Asn | |
| XM_011534462.2:c.535G>A (F12) | XP_011532764.1:p.Asp179Asn | |
| XM_017009773.2:c.1416+7269C>T (SLC34A1) | XP_016865262.1:n.1416+7269C>T | |
| NM_000505.4:c.871G>A (F12) MANE Select | NP_000496.2:p.Asp291Asn |