Linked Data
ClinVar Variation Id:
1508926
ClinVar RCV Id:
RCV002545543
dbSNP Id:
rs755822641
ExAC:
5:1272329 G / A
gnomAD v2:
5-1272329-G-A
gnomAD v4:
5-1272214-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1272214G>A , CM000667.2:g.1272214G>A | GRCh38 |
| NC_000005.9:g.1272329G>A , CM000667.1:g.1272329G>A | GRCh37 |
| NC_000005.8:g.1325329G>A | NCBI36 |
| NG_009265.1:g.27834C>T , LRG_343:g.27834C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310581.10:c.2353C>T MANE Select | ENSP00000309572.5:p.Pro785Ser | |
| ENST00000656021.1:c.*1899C>T | ENSP00000499759.1:n.*1899C>T | |
| ENST00000310581.9:c.2353C>T | ENSP00000309572.5:p.Pro785Ser | |
| ENST00000334602.10:c.2353C>T | ENSP00000334346.6:p.Pro785Ser | |
| ENST00000460137.6:c.2251-3581C>T | ENSP00000425003.1:n.2251-3581C>T | |
| ENST00000484238.6:n.1100-3581C>T | ||
| ENST00000508104.2:c.2287-3581C>T | ENSP00000426042.2:n.2287-3581C>T | |
| NM_001193376.1:c.2353C>T | NP_001180305.1:p.Pro785Ser | |
| NM_198253.2:c.2353C>T , LRG_343t1:c.2353C>T | NP_937983.2:p.Pro785Ser | |
| XM_011514104.1:c.823C>T | XP_011512406.1:p.Pro275Ser | |
| XM_011514105.1:c.709C>T | XP_011512407.1:p.Pro237Ser | |
| XM_011514106.1:c.709C>T | XP_011512408.1:p.Pro237Ser | |
| NR_149162.1:n.2345-3581C>T | ||
| NR_149163.1:n.2309-3581C>T | ||
| NM_001193376.2:c.2353C>T | NP_001180305.1:p.Pro785Ser | |
| NM_198253.3:c.2353C>T MANE Select | NP_937983.2:p.Pro785Ser | |
| NR_149162.2:n.2366-3581C>T | ||
| NR_149163.2:n.2330-3581C>T | ||
| NM_001193376.3:c.2353C>T | NP_001180305.1:p.Pro785Ser | |
| NR_149162.3:n.2366-3581C>T | ||
| NR_149163.3:n.2330-3581C>T |