Linked Data
ClinVar Variation Id:
36950
dbSNP Id:
rs387907251
gnomAD v2:
5-1264594-G-A
gnomAD v4:
5-1264479-G-A
PubMed:
PMID:22512499
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1264479G>A , CM000667.2:g.1264479G>A | GRCh38 |
| NC_000005.9:g.1264594G>A , CM000667.1:g.1264594G>A | GRCh37 |
| NC_000005.8:g.1317594G>A | NCBI36 |
| NG_009265.1:g.35569C>T , LRG_343:g.35569C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310581.10:c.2768C>T MANE Select | ENSP00000309572.5:p.Pro923Leu | |
| ENST00000656021.1:c.*2314C>T | ENSP00000499759.1:n.*2314C>T | |
| ENST00000667927.1:n.56C>T | ||
| ENST00000310581.9:c.2768C>T | ENSP00000309572.5:p.Pro923Leu | |
| ENST00000334602.10:c.2654+1985C>T | ENSP00000334346.6:n.2654+1985C>T | |
| ENST00000460137.6:c.2436+1985C>T | ENSP00000425003.1:n.2436+1985C>T | |
| ENST00000484238.6:n.1285+1985C>T | ||
| ENST00000503656.1:n.175C>T | ||
| NM_001193376.1:c.2654+1985C>T | NP_001180305.1:n.2654+1985C>T | |
| NM_198253.2:c.2768C>T , LRG_343t1:c.2768C>T | NP_937983.2:p.Pro923Leu | |
| XM_011514104.1:c.1238C>T | XP_011512406.1:p.Pro413Leu | |
| XM_011514105.1:c.1124C>T | XP_011512407.1:p.Pro375Leu | |
| XM_011514106.1:c.1124C>T | XP_011512408.1:p.Pro375Leu | |
| NR_149162.1:n.2530+1985C>T | ||
| NR_149163.1:n.2494+1985C>T | ||
| NM_001193376.2:c.2654+1985C>T | NP_001180305.1:n.2654+1985C>T | |
| NM_198253.3:c.2768C>T MANE Select | NP_937983.2:p.Pro923Leu | |
| NR_149162.2:n.2551+1985C>T | ||
| NR_149163.2:n.2515+1985C>T | ||
| NM_001193376.3:c.2654+1985C>T | NP_001180305.1:n.2654+1985C>T | |
| NR_149162.3:n.2551+1985C>T | ||
| NR_149163.3:n.2515+1985C>T |