Linked Data
ClinVar Variation Id:
134609
ClinVar RCV Id:
RCV000121301
dbSNP Id:
rs587778427
ExAC:
4:55948163 T / G
gnomAD v2:
4-55948163-T-G
gnomAD v3:
4-55081996-T-G
gnomAD v4:
4-55081996-T-G
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55081996T>G , CM000666.2:g.55081996T>G | GRCh38 |
| NC_000004.11:g.55948163T>G , CM000666.1:g.55948163T>G | GRCh37 |
| NC_000004.10:g.55642920T>G | NCBI36 |
| NG_012004.1:g.48600A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263923.5:c.3808A>C MANE Select | ENSP00000263923.4:p.Lys1270Gln | |
| ENST00000647068.1:n.3821A>C | ||
| ENST00000263923.4:c.3808A>C | ENSP00000263923.4:p.Lys1270Gln | |
| NM_002253.2:c.3808A>C | NP_002244.1:p.Lys1270Gln | |
| NM_002253.3:c.3808A>C | NP_002244.1:p.Lys1270Gln | |
| NM_002253.4:c.3808A>C MANE Select | NP_002244.1:p.Lys1270Gln |