Linked Data
ClinVar Variation Id:
761550
ClinVar RCV Id:
RCV000939605
dbSNP Id:
rs1597009371
MyVariant Identifiers:
chr16:g.23541071C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23529750C>T , CM000678.2:g.23529750C>T | GRCh38 |
| NC_000016.9:g.23541071C>T , CM000678.1:g.23541071C>T | GRCh37 |
| NC_000016.8:g.23448572C>T | NCBI36 |
| NG_027752.1:g.32626G>A | |
| NG_027752.2:g.32626G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449606.7:c.1215G>A MANE Select | ENSP00000395196.2:p.Leu405= | |
| ENST00000674054.1:c.1215G>A | ENSP00000501251.1:p.Leu405= | |
| ENST00000449606.5:c.1215G>A | ENSP00000395196.1:p.Leu405= | |
| ENST00000563232.1:c.1215G>A | ENSP00000456218.1:p.Leu405= | |
| ENST00000563459.5:c.1215G>A | ENSP00000456467.1:p.Leu405= | |
| ENST00000564501.5:c.1215G>A | ENSP00000457107.1:p.Leu405= | |
| ENST00000564987.1:n.859G>A | ||
| NM_001083614.1:c.1215G>A | NP_001077083.1:p.Leu405= | |
| NM_001308211.1:c.1215G>A | NP_001295140.1:p.Leu405= | |
| NR_003501.1:n.1247G>A | ||
| XM_011545738.1:c.1143G>A | XP_011544040.1:p.Leu381= | |
| XM_011545739.1:c.936G>A | XP_011544041.1:p.Leu312= | |
| XR_001751841.1:n.1537G>A | ||
| NM_001083614.2:c.1215G>A MANE Select | NP_001077083.1:p.Leu405= | |
| NR_003501.2:n.1222G>A |