Linked Data
dbSNP Id:
rs41291604
ExAC:
10:97919011 A / G
gnomAD v2:
10-97919011-A-G
gnomAD v3:
10-96159254-A-G
gnomAD v4:
10-96159254-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.96159254A>G , CM000672.2:g.96159254A>G | GRCh38 |
| NC_000010.10:g.97919011A>G , CM000672.1:g.97919011A>G | GRCh37 |
| NC_000010.9:g.97909001A>G | NCBI36 |
| NG_033267.1:g.34540A>G | |
| NG_033267.2:g.35035A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000316045.10:c.2932A>G MANE Select | ENSP00000479684.1:p.Met978Val | |
| ENST00000614149.2:c.2932A>G | ENSP00000481657.1:p.Met978Val | |
| ENST00000624776.4:c.2932A>G | ENSP00000485614.1:p.Met978Val | |
| ENST00000316045.9:c.2932A>G | ENSP00000479684.1:p.Met978Val | |
| ENST00000442635.2:n.35+3207A>G | ||
| ENST00000534948.2:n.3763A>G | ||
| ENST00000563195.1:n.225+25606A>G | ||
| ENST00000614149.1:c.2932A>G | ENSP00000481657.1:p.Met978Val | |
| ENST00000624776.3:c.2932A>G | ENSP00000485614.1:p.Met978Val | |
| NM_001278524.1:c.2932A>G | NP_001265453.1:p.Met978Val | |
| NM_001278525.1:c.2932A>G | NP_001265454.1:p.Met978Val | |
| NM_001278526.1:c.1342A>G | NP_001265455.1:p.Met448Val | |
| NM_014803.3:c.2932A>G | NP_055618.2:p.Met978Val | |
| XM_011540405.1:c.2932A>G | XP_011538707.1:p.Met978Val | |
| XM_011540406.1:c.2932A>G | XP_011538708.1:p.Met978Val | |
| XM_011540407.1:c.2932A>G | XP_011538709.1:p.Met978Val | |
| XM_011540408.1:c.2932A>G | XP_011538710.1:p.Met978Val | |
| XM_011540409.1:c.2932A>G | XP_011538711.1:p.Met978Val | |
| XM_011540410.1:c.2932A>G | XP_011538712.1:p.Met978Val | |
| XM_011540411.1:c.2932A>G | XP_011538713.1:p.Met978Val | |
| XM_011540412.1:c.2932A>G | XP_011538714.1:p.Met978Val | |
| XM_011540413.1:c.2932A>G | XP_011538715.1:p.Met978Val | |
| XM_011540414.1:c.2932A>G | XP_011538716.1:p.Met978Val | |
| XM_011540415.1:c.2932A>G | XP_011538717.1:p.Met978Val | |
| XM_011540416.1:c.2932A>G | XP_011538718.1:p.Met978Val | |
| XM_011540417.1:c.2932A>G | XP_011538719.1:p.Met978Val | |
| XM_011540418.1:c.2932A>G | XP_011538720.1:p.Met978Val | |
| XM_011540419.1:c.2932A>G | XP_011538721.1:p.Met978Val | |
| XM_011540420.1:c.2932A>G | XP_011538722.1:p.Met978Val | |
| XM_011540421.1:c.2932A>G | XP_011538723.1:p.Met978Val | |
| NM_001330732.1:c.2932A>G | NP_001317661.1:p.Met978Val | |
| NM_001330733.1:c.2932A>G | NP_001317662.1:p.Met978Val | |
| NM_001330734.1:c.2932A>G | NP_001317663.1:p.Met978Val | |
| NM_001330735.1:c.2932A>G | NP_001317664.1:p.Met978Val | |
| NM_001330736.1:c.2932A>G | NP_001317665.1:p.Met978Val | |
| NM_001330737.1:c.2932A>G | NP_001317666.1:p.Met978Val | |
| NM_001330738.1:c.2932A>G | NP_001317667.1:p.Met978Val | |
| NR_138482.1:n.429+25606A>G | ||
| XM_011540406.2:c.2932A>G | XP_011538708.1:p.Met978Val | |
| XM_011540410.2:c.2932A>G | XP_011538712.1:p.Met978Val | |
| XM_011540412.2:c.2932A>G | XP_011538714.1:p.Met978Val | |
| XM_011540413.3:c.2932A>G | XP_011538715.1:p.Met978Val | |
| XM_011540415.2:c.2932A>G | XP_011538717.1:p.Met978Val | |
| XM_011540418.2:c.2932A>G | XP_011538720.1:p.Met978Val | |
| XM_011540419.2:c.2932A>G | XP_011538721.1:p.Met978Val | |
| XM_011540420.2:c.2932A>G | XP_011538722.1:p.Met978Val | |
| XM_017016986.1:c.2932A>G | XP_016872475.1:p.Met978Val | |
| XM_017016989.1:c.2932A>G | XP_016872478.1:p.Met978Val | |
| XM_017016992.1:c.2932A>G | XP_016872481.1:p.Met978Val | |
| XM_017016994.2:c.2932A>G | XP_016872483.1:p.Met978Val | |
| XM_017016998.1:c.2932A>G | XP_016872487.1:p.Met978Val | |
| XM_017016999.1:c.2932A>G | XP_016872488.1:p.Met978Val | |
| XM_024448265.1:c.2932A>G | XP_024304033.1:p.Met978Val | |
| XM_024448266.1:c.2932A>G | XP_024304034.1:p.Met978Val | |
| XM_024448267.1:c.2932A>G | XP_024304035.1:p.Met978Val | |
| XM_024448268.1:c.2932A>G | XP_024304036.1:p.Met978Val | |
| XM_024448269.1:c.2932A>G | XP_024304037.1:p.Met978Val | |
| NM_001278524.2:c.2932A>G | NP_001265453.1:p.Met978Val | |
| NM_001278526.2:c.1342A>G | NP_001265455.1:p.Met448Val | |
| NM_001330732.2:c.2932A>G | NP_001317661.1:p.Met978Val | |
| NM_014803.4:c.2932A>G | NP_055618.2:p.Met978Val | |
| NM_001278525.2:c.2932A>G | NP_001265454.1:p.Met978Val | |
| NM_001330736.2:c.2932A>G MANE Select | NP_001317665.1:p.Met978Val |