Linked Data
ClinVar Variation Id:
2194627
dbSNP Id:
rs757589247
ExAC:
9:139391634 C / A
gnomAD v2:
9-139391634-C-A
gnomAD v4:
9-136497182-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136497182C>A , CM000671.2:g.136497182C>A | GRCh38 |
| NC_000009.11:g.139391634C>A , CM000671.1:g.139391634C>A | GRCh37 |
| NC_000009.10:g.138511455C>A | NCBI36 |
| NG_007458.1:g.53605G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651671.1:c.6557G>T MANE Select | ENSP00000498587.1:p.Gly2186Val | |
| ENST00000679595.1:c.*1597G>T | ENSP00000506241.1:n.*1597G>T | |
| ENST00000679969.1:n.3153G>T | ||
| ENST00000680003.1:n.2889G>T | ||
| ENST00000680133.1:c.6443G>T | ENSP00000505319.1:p.Gly2148Val | |
| ENST00000680218.1:c.6437G>T | ENSP00000505339.1:p.Gly2146Val | |
| ENST00000680668.1:c.6443G>T | ENSP00000506336.1:p.Gly2148Val | |
| ENST00000680778.1:c.4154G>T | ENSP00000506033.1:p.Gly1385Val | |
| ENST00000680924.1:c.*3957G>T | ENSP00000506031.1:n.*3957G>T | |
| ENST00000681135.1:c.*4166G>T | ENSP00000506636.1:n.*4166G>T | |
| ENST00000681298.1:n.4662G>T | ||
| ENST00000681454.1:c.*5793G>T | ENSP00000505763.1:n.*5793G>T | |
| ENST00000277541.6:c.6557G>T | ENSP00000277541.6:p.Gly2186Val | |
| NM_017617.3:c.6557G>T | NP_060087.3:p.Gly2186Val | |
| XM_011518717.1:c.5858G>T | XP_011517019.1:p.Gly1953Val | |
| NM_017617.5:c.6557G>T MANE Select | NP_060087.3:p.Gly2186Val | |
| XM_011518717.2:c.5834G>T | XP_011517019.2:p.Gly1945Val |