Linked Data
ClinVar Variation Id:
1693892
ClinVar RCV Id:
RCV002261761
dbSNP Id:
rs2126691846
gnomAD v4:
5-1294860-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1294860G>A , CM000667.2:g.1294860G>A | GRCh38 |
| NC_000005.9:g.1294975G>A , CM000667.1:g.1294975G>A | GRCh37 |
| NC_000005.8:g.1347975G>A | NCBI36 |
| NG_009265.1:g.5188C>T , LRG_343:g.5188C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310581.10:c.130C>T MANE Select | ENSP00000309572.5:p.Pro44Ser | |
| ENST00000656021.1:c.130C>T | ENSP00000499759.1:p.Pro44Ser | |
| ENST00000310581.9:c.130C>T | ENSP00000309572.5:p.Pro44Ser | |
| ENST00000334602.10:c.130C>T | ENSP00000334346.6:p.Pro44Ser | |
| ENST00000460137.6:c.130C>T | ENSP00000425003.1:p.Pro44Ser | |
| ENST00000508104.2:c.130C>T | ENSP00000426042.2:p.Pro44Ser | |
| ENST00000522877.1:n.210C>T | ||
| NM_001193376.1:c.130C>T | NP_001180305.1:p.Pro44Ser | |
| NM_198253.2:c.130C>T , LRG_343t1:c.130C>T | NP_937983.2:p.Pro44Ser | |
| NR_149162.1:n.188C>T | ||
| NR_149163.1:n.188C>T | ||
| NM_001193376.2:c.130C>T | NP_001180305.1:p.Pro44Ser | |
| NM_198253.3:c.130C>T MANE Select | NP_937983.2:p.Pro44Ser | |
| NR_149162.2:n.209C>T | ||
| NR_149163.2:n.209C>T | ||
| NM_001193376.3:c.130C>T | NP_001180305.1:p.Pro44Ser | |
| NR_149162.3:n.209C>T | ||
| NR_149163.3:n.209C>T |