Linked Data
ClinVar Variation Id:
520076
ClinVar RCV Id:
RCV002315120
dbSNP Id:
rs767440286
ExAC:
9:139391600 G / C
gnomAD v2:
9-139391600-G-C
gnomAD v4:
9-136497148-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136497148G>C , CM000671.2:g.136497148G>C | GRCh38 |
| NC_000009.11:g.139391600G>C , CM000671.1:g.139391600G>C | GRCh37 |
| NC_000009.10:g.138511421G>C | NCBI36 |
| NG_007458.1:g.53639C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651671.1:c.6591C>G MANE Select | ENSP00000498587.1:p.Leu2197= | |
| ENST00000679595.1:c.*1631C>G | ENSP00000506241.1:n.*1631C>G | |
| ENST00000679969.1:n.3187C>G | ||
| ENST00000680003.1:n.2923C>G | ||
| ENST00000680133.1:c.6477C>G | ENSP00000505319.1:p.Leu2159= | |
| ENST00000680218.1:c.6471C>G | ENSP00000505339.1:p.Leu2157= | |
| ENST00000680668.1:c.6477C>G | ENSP00000506336.1:p.Leu2159= | |
| ENST00000680778.1:c.4188C>G | ENSP00000506033.1:p.Leu1396= | |
| ENST00000680924.1:c.*3991C>G | ENSP00000506031.1:n.*3991C>G | |
| ENST00000681135.1:c.*4200C>G | ENSP00000506636.1:n.*4200C>G | |
| ENST00000681298.1:n.4696C>G | ||
| ENST00000681454.1:c.*5827C>G | ENSP00000505763.1:n.*5827C>G | |
| ENST00000277541.6:c.6591C>G | ENSP00000277541.6:p.Leu2197= | |
| NM_017617.3:c.6591C>G | NP_060087.3:p.Leu2197= | |
| XM_011518717.1:c.5892C>G | XP_011517019.1:p.Leu1964= | |
| NM_017617.5:c.6591C>G MANE Select | NP_060087.3:p.Leu2197= | |
| XM_011518717.2:c.5868C>G | XP_011517019.2:p.Leu1956= |