Linked Data
ClinVar Variation Id:
2441
ClinVar RCV Id:
RCV000002545
dbSNP Id:
rs121912590
PubMed:
PMID:14595441
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.39332607A>C , CM000674.2:g.39332607A>C | GRCh38 |
| NC_000012.11:g.39726409A>C , CM000674.1:g.39726409A>C | GRCh37 |
| NC_000012.10:g.38012676A>C | NCBI36 |
| NG_017067.1:g.115784T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361418.10:c.2840T>G MANE Select | ENSP00000354878.5:p.Met947Arg | |
| ENST00000636569.1:c.2774T>G | ENSP00000490369.1:p.Met925Arg | |
| ENST00000361418.9:c.2840T>G | ENSP00000354878.5:p.Met947Arg | |
| ENST00000361961.7:c.2801T>G | ENSP00000354851.3:p.Met934Arg | |
| ENST00000541463.6:c.2732T>G | ENSP00000438075.2:p.Met911Arg | |
| ENST00000544797.6:c.2801T>G | ENSP00000445606.2:p.Met934Arg | |
| ENST00000547108.5:c.613T>G | ||
| ENST00000552961.5:c.883T>G | ||
| NM_001173463.1:c.2801T>G | NP_001166934.1:p.Met934Arg | |
| NM_001173464.1:c.2840T>G | NP_001166935.1:p.Met947Arg | |
| NM_001173465.1:c.2732T>G | NP_001166936.1:p.Met911Arg | |
| NM_017641.3:c.2801T>G | NP_060111.2:p.Met934Arg | |
| XM_005269007.1:c.2840T>G | XP_005269064.1:p.Met947Arg | |
| XM_005269008.1:c.2840T>G | XP_005269065.1:p.Met947Arg | |
| XM_005269009.1:c.2840T>G | XP_005269066.1:p.Met947Arg | |
| XM_005269010.1:c.2801T>G | XP_005269067.1:p.Met934Arg | |
| XM_005269011.1:c.2840T>G | XP_005269068.1:p.Met947Arg | |
| XM_005269012.1:c.2840T>G | XP_005269069.1:p.Met947Arg | |
| XM_005269013.1:c.2840T>G | XP_005269070.1:p.Met947Arg | |
| XM_005269014.1:c.2840T>G | XP_005269071.1:p.Met947Arg | |
| XM_006719493.1:c.2801T>G | XP_006719556.1:p.Met934Arg | |
| XM_006719494.1:c.2840T>G | XP_006719557.1:p.Met947Arg | |
| XM_006719496.1:c.2801T>G | XP_006719559.1:p.Met934Arg | |
| XM_011538556.1:c.2771T>G | XP_011536858.1:p.Met924Arg | |
| XR_429108.1:n.3172T>G | ||
| XM_005269007.3:c.2840T>G | XP_005269064.1:p.Met947Arg | |
| XM_005269008.3:c.2840T>G | XP_005269065.1:p.Met947Arg | |
| XM_005269009.3:c.2840T>G | XP_005269066.1:p.Met947Arg | |
| XM_005269010.3:c.2801T>G | XP_005269067.1:p.Met934Arg | |
| XM_005269011.3:c.2840T>G | XP_005269068.1:p.Met947Arg | |
| XM_005269012.3:c.2840T>G | XP_005269069.1:p.Met947Arg | |
| XM_005269013.3:c.2840T>G | XP_005269070.1:p.Met947Arg | |
| XM_005269014.3:c.2840T>G | XP_005269071.1:p.Met947Arg | |
| XM_006719493.3:c.2801T>G | XP_006719556.1:p.Met934Arg | |
| XM_006719494.3:c.2840T>G | XP_006719557.1:p.Met947Arg | |
| XM_011538556.3:c.2771T>G | XP_011536858.1:p.Met924Arg | |
| XM_017019607.2:c.2801T>G | XP_016875096.1:p.Met934Arg | |
| XM_017019608.2:c.2801T>G | XP_016875097.1:p.Met934Arg | |
| XM_017019609.2:c.2801T>G | XP_016875098.1:p.Met934Arg | |
| XM_017019610.2:c.2840T>G | XP_016875099.1:p.Met947Arg | |
| XM_017019611.2:c.2801T>G | XP_016875100.1:p.Met934Arg | |
| NM_001173463.2:c.2801T>G | NP_001166934.1:p.Met934Arg | |
| NM_001173464.2:c.2840T>G MANE Select | NP_001166935.1:p.Met947Arg | |
| NM_001173465.2:c.2732T>G | NP_001166936.1:p.Met911Arg | |
| NM_017641.4:c.2801T>G | NP_060111.2:p.Met934Arg | |
| NM_001378439.1:c.2840T>G | NP_001365368.1:p.Met947Arg | |
| NM_001378440.1:c.2840T>G | NP_001365369.1:p.Met947Arg | |
| NM_001378441.1:c.2801T>G | NP_001365370.1:p.Met934Arg |