Linked Data
ClinVar Variation Id:
2663346
ClinVar RCV Id:
RCV003442534
dbSNP Id:
rs149322312
ExAC:
7:92733456 A / T
gnomAD v2:
7-92733456-A-T
gnomAD v3:
7-93104143-A-T
gnomAD v4:
7-93104143-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.93104143A>T , CM000669.2:g.93104143A>T | GRCh38 |
| NC_000007.13:g.92733456A>T , CM000669.1:g.92733456A>T | GRCh37 |
| NC_000007.12:g.92571392A>T | NCBI36 |
| NG_023419.1:g.18881T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379958.3:c.1955T>A MANE Select | ENSP00000369292.2:p.Leu652Gln | |
| ENST00000379958.2:c.1955T>A | ENSP00000369292.2:p.Leu652Gln | |
| ENST00000446617.1:c.1955T>A | ENSP00000414529.1:p.Leu652Gln | |
| ENST00000620985.4:c.1955T>A | ENSP00000484636.1:p.Leu652Gln | |
| NM_001193307.1:c.1955T>A | NP_001180236.1:p.Leu652Gln | |
| NM_017654.3:c.1955T>A | NP_060124.2:p.Leu652Gln | |
| NM_017654.4:c.1955T>A MANE Select | NP_060124.2:p.Leu652Gln | |
| NM_001193307.2:c.1955T>A | NP_001180236.1:p.Leu652Gln |