Linked Data
ClinVar Variation Id:
31626
ClinVar RCV Id:
RCV000024323
dbSNP Id:
rs387907173
PubMed:
PMID:22508347
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.29702776A>T , CM000681.2:g.29702776A>T | GRCh38 |
| NC_000019.9:g.30193683A>T , CM000681.1:g.30193683A>T | GRCh37 |
| NC_000019.8:g.34885523A>T | NCBI36 |
| NG_031970.1:g.18014T>A | |
| NG_031970.2:g.18014T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000623113.3:c.362T>A | ENSP00000485413.2:p.Leu121Gln | |
| ENST00000323670.14:c.362T>A MANE Select | ENSP00000313332.9:p.Leu121Gln | |
| ENST00000323670.13:c.362T>A | ENSP00000313332.8:p.Leu121Gln | |
| ENST00000392275.1:n.753T>A | ||
| ENST00000392276.1:c.170T>A | ENSP00000376102.1:p.Leu57Gln | |
| ENST00000392278.2:c.395T>A | ENSP00000376103.2:p.Leu132Gln | |
| ENST00000592153.5:c.307T>A | ENSP00000467117.1:p.Cys103Ser | |
| ENST00000614091.4:c.362T>A | ENSP00000482097.1:p.Leu121Gln | |
| ENST00000623113.1:c.170T>A | ENSP00000485413.1:p.Leu57Gln | |
| NM_001031726.3:c.395T>A | NP_001026896.2:p.Leu132Gln | |
| NM_001256046.1:c.307T>A | NP_001242975.1:p.Cys103Ser | |
| NM_001256047.1:c.362T>A | NP_001242976.1:p.Leu121Gln | |
| NM_001282929.1:c.170T>A | NP_001269858.1:p.Leu57Gln | |
| NM_001282930.1:c.170T>A | NP_001269859.1:p.Leu57Gln | |
| NM_001282931.1:c.170T>A | NP_001269860.1:p.Leu57Gln | |
| NM_031448.4:c.362T>A | NP_113636.2:p.Leu121Gln | |
| XM_024451734.1:c.524T>A | XP_024307502.1:p.Leu175Gln | |
| XM_024451735.1:c.362T>A | XP_024307503.1:p.Leu121Gln | |
| XM_024451736.1:c.362T>A | XP_024307504.1:p.Leu121Gln | |
| XM_024451737.1:c.362T>A | XP_024307505.1:p.Leu121Gln | |
| XM_024451738.1:c.362T>A | XP_024307506.1:p.Leu121Gln | |
| NM_001256046.2:c.307T>A | NP_001242975.1:p.Cys103Ser | |
| NM_001282930.2:c.170T>A | NP_001269859.1:p.Leu57Gln | |
| NM_001282931.2:c.170T>A | NP_001269860.1:p.Leu57Gln | |
| NM_031448.6:c.362T>A MANE Select | NP_113636.2:p.Leu121Gln | |
| NM_001031726.4:c.362T>A | NP_001026896.3:p.Leu121Gln | |
| NM_001256046.3:c.307T>A | NP_001242975.1:p.Cys103Ser | |
| NM_001256047.2:c.362T>A | NP_001242976.1:p.Leu121Gln | |
| NM_001282930.3:c.170T>A | NP_001269859.1:p.Leu57Gln | |
| NM_001282931.3:c.170T>A | NP_001269860.1:p.Leu57Gln |