Linked Data
ClinVar Variation Id:
156440
ClinVar RCV Id:
RCV000146000
RCV000144503
RCV000370536
RCV000369896
RCV000315169
RCV000839535
RCV001516688
RCV001701526
dbSNP Id:
rs2230267
ExAC:
19:49469087 T / C
gnomAD v2:
19-49469087-T-C
gnomAD v3:
19-48965830-T-C
gnomAD v4:
19-48965830-T-C
PubMed:
PMID:17182944
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48965830T>C , CM000681.2:g.48965830T>C | GRCh38 |
| NC_000019.9:g.49469087T>C , CM000681.1:g.49469087T>C | GRCh37 |
| NC_000019.8:g.54160899T>C | NCBI36 |
| NG_008152.1:g.5522T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331825.11:c.163T>C MANE Select | ENSP00000366525.2:p.Leu55= | |
| ENST00000331825.10:c.163T>C | ENSP00000366525.2:p.Leu55= | |
| ENST00000622577.2:c.163T>C | ENSP00000484043.1:p.Leu55= | |
| NM_000146.3:c.163T>C | NP_000137.2:p.Leu55= | |
| XM_024451447.1:c.673T>C | XP_024307215.1:p.Leu225= | |
| NM_000146.4:c.163T>C MANE Select | NP_000137.2:p.Leu55= |