Linked Data
ClinVar Variation Id:
350629
dbSNP Id:
rs370292237
ExAC:
5:1264581 T / C
gnomAD v2:
5-1264581-T-C
gnomAD v3:
5-1264466-T-C
gnomAD v4:
5-1264466-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1264466T>C , CM000667.2:g.1264466T>C | GRCh38 |
| NC_000005.9:g.1264581T>C , CM000667.1:g.1264581T>C | GRCh37 |
| NC_000005.8:g.1317581T>C | NCBI36 |
| NG_009265.1:g.35582A>G , LRG_343:g.35582A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310581.10:c.2781A>G MANE Select | ENSP00000309572.5:p.Leu927= | |
| ENST00000656021.1:c.*2327A>G | ENSP00000499759.1:n.*2327A>G | |
| ENST00000667927.1:n.69A>G | ||
| ENST00000310581.9:c.2781A>G | ENSP00000309572.5:p.Leu927= | |
| ENST00000334602.10:c.2654+1998A>G | ENSP00000334346.6:n.2654+1998A>G | |
| ENST00000460137.6:c.2436+1998A>G | ENSP00000425003.1:n.2436+1998A>G | |
| ENST00000484238.6:n.1285+1998A>G | ||
| ENST00000503656.1:n.188A>G | ||
| NM_001193376.1:c.2654+1998A>G | NP_001180305.1:n.2654+1998A>G | |
| NM_198253.2:c.2781A>G , LRG_343t1:c.2781A>G | NP_937983.2:p.Leu927= | |
| XM_011514104.1:c.1251A>G | XP_011512406.1:p.Leu417= | |
| XM_011514105.1:c.1137A>G | XP_011512407.1:p.Leu379= | |
| XM_011514106.1:c.1137A>G | XP_011512408.1:p.Leu379= | |
| NR_149162.1:n.2530+1998A>G | ||
| NR_149163.1:n.2494+1998A>G | ||
| NM_001193376.2:c.2654+1998A>G | NP_001180305.1:n.2654+1998A>G | |
| NM_198253.3:c.2781A>G MANE Select | NP_937983.2:p.Leu927= | |
| NR_149162.2:n.2551+1998A>G | ||
| NR_149163.2:n.2515+1998A>G | ||
| NM_001193376.3:c.2654+1998A>G | NP_001180305.1:n.2654+1998A>G | |
| NR_149162.3:n.2551+1998A>G | ||
| NR_149163.3:n.2515+1998A>G |