Linked Data
ClinVar Variation Id:
415415
dbSNP Id:
rs1037034230
gnomAD v2:
9-139391623-G-A
gnomAD v3:
9-136497171-G-A
gnomAD v4:
9-136497171-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136497171G>A , CM000671.2:g.136497171G>A | GRCh38 |
| NC_000009.11:g.139391623G>A , CM000671.1:g.139391623G>A | GRCh37 |
| NC_000009.10:g.138511444G>A | NCBI36 |
| NG_007458.1:g.53616C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651671.1:c.6568C>T MANE Select | ENSP00000498587.1:p.Leu2190= | |
| ENST00000679595.1:c.*1608C>T | ENSP00000506241.1:n.*1608C>T | |
| ENST00000679969.1:n.3164C>T | ||
| ENST00000680003.1:n.2900C>T | ||
| ENST00000680133.1:c.6454C>T | ENSP00000505319.1:p.Leu2152= | |
| ENST00000680218.1:c.6448C>T | ENSP00000505339.1:p.Leu2150= | |
| ENST00000680668.1:c.6454C>T | ENSP00000506336.1:p.Leu2152= | |
| ENST00000680778.1:c.4165C>T | ENSP00000506033.1:p.Leu1389= | |
| ENST00000680924.1:c.*3968C>T | ENSP00000506031.1:n.*3968C>T | |
| ENST00000681135.1:c.*4177C>T | ENSP00000506636.1:n.*4177C>T | |
| ENST00000681298.1:n.4673C>T | ||
| ENST00000681454.1:c.*5804C>T | ENSP00000505763.1:n.*5804C>T | |
| ENST00000277541.6:c.6568C>T | ENSP00000277541.6:p.Leu2190= | |
| NM_017617.3:c.6568C>T | NP_060087.3:p.Leu2190= | |
| XM_011518717.1:c.5869C>T | XP_011517019.1:p.Leu1957= | |
| NM_017617.5:c.6568C>T MANE Select | NP_060087.3:p.Leu2190= | |
| XM_011518717.2:c.5845C>T | XP_011517019.2:p.Leu1949= |