Linked Data
ClinVar Variation Id:
544200
ClinVar RCV Id:
RCV000655279
dbSNP Id:
rs749488166
ExAC:
9:139393420 G / A
gnomAD v2:
9-139393420-G-A
gnomAD v3:
9-136498968-G-A
gnomAD v4:
9-136498968-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136498968G>A , CM000671.2:g.136498968G>A | GRCh38 |
| NC_000009.11:g.139393420G>A , CM000671.1:g.139393420G>A | GRCh37 |
| NC_000009.10:g.138513241G>A | NCBI36 |
| NG_007458.1:g.51819C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651671.1:c.6111C>T MANE Select | ENSP00000498587.1:p.Ala2037= | |
| ENST00000679595.1:c.*1151C>T | ENSP00000506241.1:n.*1151C>T | |
| ENST00000679969.1:n.2707C>T | ||
| ENST00000680003.1:n.2443C>T | ||
| ENST00000680133.1:c.5997C>T | ENSP00000505319.1:p.Ala1999= | |
| ENST00000680218.1:c.5991C>T | ENSP00000505339.1:p.Ala1997= | |
| ENST00000680668.1:c.5997C>T | ENSP00000506336.1:p.Ala1999= | |
| ENST00000680778.1:c.3708C>T | ENSP00000506033.1:p.Ala1236= | |
| ENST00000680924.1:c.*3511C>T | ENSP00000506031.1:n.*3511C>T | |
| ENST00000681135.1:c.*3720C>T | ENSP00000506636.1:n.*3720C>T | |
| ENST00000681298.1:n.4216C>T | ||
| ENST00000681454.1:c.*5347C>T | ENSP00000505763.1:n.*5347C>T | |
| ENST00000277541.6:c.6111C>T | ENSP00000277541.6:p.Ala2037= | |
| NM_017617.3:c.6111C>T | NP_060087.3:p.Ala2037= | |
| XM_011518717.1:c.5412C>T | XP_011517019.1:p.Ala1804= | |
| NM_017617.5:c.6111C>T MANE Select | NP_060087.3:p.Ala2037= | |
| XM_011518717.2:c.5388C>T | XP_011517019.2:p.Ala1796= |