Linked Data
ClinVar Variation Id:
513849
dbSNP Id:
rs139317695
ExAC:
1:197093401 T / G
gnomAD v2:
1-197093401-T-G
gnomAD v3:
1-197124271-T-G
gnomAD v4:
1-197124271-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197124271T>G , CM000663.2:g.197124271T>G | GRCh38 |
| NC_000001.10:g.197093401T>G , CM000663.1:g.197093401T>G | GRCh37 |
| NC_000001.9:g.195360024T>G | NCBI36 |
| NG_015867.1:g.27424A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367408.6:n.1271A>C | ||
| ENST00000367409.9:c.3229A>C MANE Select | ENSP00000356379.4:p.Lys1077Gln | |
| ENST00000680112.1:n.1285A>C | ||
| ENST00000680265.1:c.3229A>C | ENSP00000505384.1:p.Lys1077Gln | |
| ENST00000680710.1:c.3229A>C | ENSP00000506676.1:p.Lys1077Gln | |
| ENST00000681879.1:c.3229A>C | ENSP00000505363.1:p.Lys1077Gln | |
| ENST00000294732.11:c.3229A>C | ENSP00000294732.7:p.Lys1077Gln | |
| ENST00000367408.5:c.979A>C | ENSP00000356378.1:p.Lys327Gln | |
| ENST00000367409.8:c.3229A>C | ENSP00000356379.4:p.Lys1077Gln | |
| ENST00000612785.1:c.561+19420A>C | ENSP00000479244.1:n.561+19420A>C | |
| NM_001206846.1:c.3229A>C | NP_001193775.1:p.Lys1077Gln | |
| NM_018136.4:c.3229A>C | NP_060606.3:p.Lys1077Gln | |
| NM_018136.5:c.3229A>C MANE Select | NP_060606.3:p.Lys1077Gln | |
| NM_001206846.2:c.3229A>C | NP_001193775.1:p.Lys1077Gln |