Linked Data
ClinVar Variation Id:
1056211
ClinVar RCV Id:
RCV003103982
dbSNP Id:
rs1172617636
gnomAD v2:
5-1294243-T-C
gnomAD v3:
5-1294128-T-C
gnomAD v4:
5-1294128-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1294128T>C , CM000667.2:g.1294128T>C | GRCh38 |
| NC_000005.9:g.1294243T>C , CM000667.1:g.1294243T>C | GRCh37 |
| NC_000005.8:g.1347243T>C | NCBI36 |
| NG_009265.1:g.5920A>G , LRG_343:g.5920A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310581.10:c.758A>G MANE Select | ENSP00000309572.5:p.Gln253Arg | |
| ENST00000656021.1:c.758A>G | ENSP00000499759.1:p.Gln253Arg | |
| ENST00000310581.9:c.758A>G | ENSP00000309572.5:p.Gln253Arg | |
| ENST00000334602.10:c.758A>G | ENSP00000334346.6:p.Gln253Arg | |
| ENST00000460137.6:c.758A>G | ENSP00000425003.1:p.Gln253Arg | |
| ENST00000508104.2:c.758A>G | ENSP00000426042.2:p.Gln253Arg | |
| NM_001193376.1:c.758A>G | NP_001180305.1:p.Gln253Arg | |
| NM_198253.2:c.758A>G , LRG_343t1:c.758A>G | NP_937983.2:p.Gln253Arg | |
| NR_149162.1:n.816A>G | ||
| NR_149163.1:n.816A>G | ||
| NM_001193376.2:c.758A>G | NP_001180305.1:p.Gln253Arg | |
| NM_198253.3:c.758A>G MANE Select | NP_937983.2:p.Gln253Arg | |
| NR_149162.2:n.837A>G | ||
| NR_149163.2:n.837A>G | ||
| NM_001193376.3:c.758A>G | NP_001180305.1:p.Gln253Arg | |
| NR_149162.3:n.837A>G | ||
| NR_149163.3:n.837A>G |