Linked Data
ClinVar Variation Id:
1104818
ClinVar RCV Id:
RCV001428966
dbSNP Id:
rs2133321884
MyVariant Identifiers:
chr9:g.139393435C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136498983C>T , CM000671.2:g.136498983C>T | GRCh38 |
| NC_000009.11:g.139393435C>T , CM000671.1:g.139393435C>T | GRCh37 |
| NC_000009.10:g.138513256C>T | NCBI36 |
| NG_007458.1:g.51804G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651671.1:c.6096G>A MANE Select | ENSP00000498587.1:p.Leu2032= | |
| ENST00000679595.1:c.*1136G>A | ENSP00000506241.1:n.*1136G>A | |
| ENST00000679969.1:n.2692G>A | ||
| ENST00000680003.1:n.2428G>A | ||
| ENST00000680133.1:c.5982G>A | ENSP00000505319.1:p.Leu1994= | |
| ENST00000680218.1:c.5976G>A | ENSP00000505339.1:p.Leu1992= | |
| ENST00000680668.1:c.5982G>A | ENSP00000506336.1:p.Leu1994= | |
| ENST00000680778.1:c.3693G>A | ENSP00000506033.1:p.Leu1231= | |
| ENST00000680924.1:c.*3496G>A | ENSP00000506031.1:n.*3496G>A | |
| ENST00000681135.1:c.*3705G>A | ENSP00000506636.1:n.*3705G>A | |
| ENST00000681298.1:n.4201G>A | ||
| ENST00000681454.1:c.*5332G>A | ENSP00000505763.1:n.*5332G>A | |
| ENST00000277541.6:c.6096G>A | ENSP00000277541.6:p.Leu2032= | |
| NM_017617.3:c.6096G>A | NP_060087.3:p.Leu2032= | |
| XM_011518717.1:c.5397G>A | XP_011517019.1:p.Leu1799= | |
| NM_017617.5:c.6096G>A MANE Select | NP_060087.3:p.Leu2032= | |
| XM_011518717.2:c.5373G>A | XP_011517019.2:p.Leu1791= |