Linked Data
ClinVar Variation Id:
350518
ClinVar RCV Id:
RCV000309581
RCV000344253
RCV000398654
RCV001815383
RCV002255372
RCV002523498
RCV002509370
dbSNP Id:
rs373400596
ExAC:
5:1255409 C / G
gnomAD v2:
5-1255409-C-G
gnomAD v3:
5-1255294-C-G
gnomAD v4:
5-1255294-C-G
PubMed:
PMID:26024875
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1255294C>G , CM000667.2:g.1255294C>G | GRCh38 |
| NC_000005.9:g.1255409C>G , CM000667.1:g.1255409C>G | GRCh37 |
| NC_000005.8:g.1308409C>G | NCBI36 |
| NG_009265.1:g.44754G>C , LRG_343:g.44754G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310581.10:c.3150G>C MANE Select | ENSP00000309572.5:p.Lys1050Asn | |
| ENST00000656021.1:c.*2696G>C | ENSP00000499759.1:n.*2696G>C | |
| ENST00000667927.1:n.438G>C | ||
| ENST00000310581.9:c.3150G>C | ENSP00000309572.5:p.Lys1050Asn | |
| ENST00000334602.10:c.2961G>C | ENSP00000334346.6:p.Lys987Asn | |
| ENST00000460137.6:c.2743G>C | ENSP00000425003.1:n.2743G>C | |
| ENST00000484238.6:n.1592G>C | ||
| NM_001193376.1:c.2961G>C | NP_001180305.1:p.Lys987Asn | |
| NM_198253.2:c.3150G>C , LRG_343t1:c.3150G>C | NP_937983.2:p.Lys1050Asn | |
| XM_011514104.1:c.1620G>C | XP_011512406.1:p.Lys540Asn | |
| XM_011514105.1:c.1506G>C | XP_011512407.1:p.Lys502Asn | |
| XM_011514106.1:c.1506G>C | XP_011512408.1:p.Lys502Asn | |
| XR_925683.1:n.347-12C>G | ||
| NR_149162.1:n.2837G>C | ||
| NR_149163.1:n.2801G>C | ||
| NM_001193376.2:c.2961G>C | NP_001180305.1:p.Lys987Asn | |
| NM_198253.3:c.3150G>C MANE Select | NP_937983.2:p.Lys1050Asn | |
| NR_149162.2:n.2858G>C | ||
| NR_149163.2:n.2822G>C | ||
| NM_001193376.3:c.2961G>C | NP_001180305.1:p.Lys987Asn | |
| NR_149162.3:n.2858G>C | ||
| NR_149163.3:n.2822G>C |