Linked Data
dbSNP Id:
rs770695288
ExAC:
10:97396942 A / C
gnomAD v2:
10-97396942-A-C
gnomAD v4:
10-95637185-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.95637185A>C , CM000672.2:g.95637185A>C | GRCh38 |
| NC_000010.10:g.97396942A>C , CM000672.1:g.97396942A>C | GRCh37 |
| NC_000010.9:g.97386932A>C | NCBI36 |
| NG_012258.1:g.24626T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371224.7:c.466T>G MANE Select | ENSP00000360268.2:p.Leu156Val | |
| ENST00000371221.3:c.466T>G | ENSP00000360265.3:p.Leu156Val | |
| ENST00000371224.6:c.466T>G | ENSP00000360268.2:p.Leu156Val | |
| ENST00000483788.1:n.658T>G | ||
| NM_001017423.1:c.466T>G | NP_001017423.1:p.Leu156Val | |
| NM_002860.3:c.466T>G | NP_002851.2:p.Leu156Val | |
| XM_006717933.1:c.466T>G | XP_006717996.1:p.Leu156Val | |
| XM_011540001.1:c.133T>G | XP_011538303.1:p.Leu45Val | |
| NM_001323412.1:c.133T>G | NP_001310341.1:p.Leu45Val | |
| NM_001323413.1:c.466T>G | NP_001310342.1:p.Leu156Val | |
| NM_001323414.1:c.466T>G | NP_001310343.1:p.Leu156Val | |
| NM_001323415.1:c.466T>G | NP_001310344.1:p.Leu156Val | |
| NM_001323416.1:c.133T>G | NP_001310345.1:p.Leu45Val | |
| NM_001323417.1:c.453+102T>G | NP_001310346.1:n.453+102T>G | |
| NM_001323418.1:c.133T>G | NP_001310347.1:p.Leu45Val | |
| NM_001323419.1:c.-78-3536T>G | NP_001310348.1:n.-78-3536T>G | |
| XM_024448094.1:c.466T>G | XP_024303862.1:p.Leu156Val | |
| XM_024448095.1:c.466T>G | XP_024303863.1:p.Leu156Val | |
| XM_024448096.1:c.466T>G | XP_024303864.1:p.Leu156Val | |
| XM_024448097.1:c.133T>G | XP_024303865.1:p.Leu45Val | |
| NM_002860.4:c.466T>G MANE Select | NP_002851.2:p.Leu156Val | |
| NM_001017423.2:c.466T>G | NP_001017423.1:p.Leu156Val | |
| NM_001323412.2:c.133T>G | NP_001310341.1:p.Leu45Val | |
| NM_001323413.2:c.466T>G | NP_001310342.1:p.Leu156Val | |
| NM_001323414.2:c.466T>G | NP_001310343.1:p.Leu156Val | |
| NM_001323415.2:c.466T>G | NP_001310344.1:p.Leu156Val | |
| NM_001323416.2:c.133T>G | NP_001310345.1:p.Leu45Val | |
| NM_001323417.2:c.453+102T>G | NP_001310346.1:n.453+102T>G | |
| NM_001323418.2:c.133T>G | NP_001310347.1:p.Leu45Val | |
| NM_001323419.2:c.-78-3536T>G | NP_001310348.1:n.-78-3536T>G |