Linked Data
ClinVar Variation Id:
424952
dbSNP Id:
rs370568585
ExAC:
10:73575014 C / G
gnomAD v2:
10-73575014-C-G
gnomAD v3:
10-71815257-C-G
gnomAD v4:
10-71815257-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71815257C>G , CM000672.2:g.71815257C>G | GRCh38 |
| NC_000010.10:g.73575014C>G , CM000672.1:g.73575014C>G | GRCh37 |
| NC_000010.9:g.73245020C>G | NCBI36 |
| NG_008835.1:g.423311C>G | |
| NG_009301.1:g.41069G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.10044C>G MANE Select | ENSP00000224721.9:p.Pro3348= | |
| ENST00000642965.1:c.3977C>G | ENSP00000495222.1:n.3977C>G | |
| ENST00000647092.1:c.3536C>G | ENSP00000495176.1:n.3536C>G | |
| ENST00000224721.10:c.10059C>G | ENSP00000224721.8:p.Pro3353= | |
| ENST00000398788.4:c.3324C>G | ENSP00000381768.3:p.Pro1108= | |
| ENST00000475158.1:n.3475C>G | ||
| ENST00000619887.4:c.3219C>G | ENSP00000478374.1:p.Pro1073= | |
| ENST00000622827.4:c.10044C>G | ENSP00000483211.1:p.Pro3348= | |
| NM_001171933.1:c.3324C>G | NP_001165404.1:p.Pro1108= | |
| NM_001171934.1:c.3219C>G | NP_001165405.1:p.Pro1073= | |
| NM_001171935.1:c.735C>G | NP_001165406.1:p.Pro245= | |
| NM_001171936.1:c.630C>G | NP_001165407.1:p.Pro210= | |
| NM_022124.5:c.10044C>G | NP_071407.4:p.Pro3348= | |
| XM_006717940.2:c.10239C>G | XP_006718003.1:p.Pro3413= | |
| XM_006717942.2:c.10173C>G | XP_006718005.1:p.Pro3391= | |
| XM_011540039.1:c.10236C>G | XP_011538341.1:p.Pro3412= | |
| XM_011540040.1:c.10233C>G | XP_011538342.1:p.Pro3411= | |
| XM_011540041.1:c.10179C>G | XP_011538343.1:p.Pro3393= | |
| XM_011540042.1:c.10149C>G | XP_011538344.1:p.Pro3383= | |
| XM_011540043.1:c.10134C>G | XP_011538345.1:p.Pro3378= | |
| XM_011540044.1:c.10104C>G | XP_011538346.1:p.Pro3368= | |
| XM_011540046.1:c.9699C>G | XP_011538348.1:p.Pro3233= | |
| XM_011540047.1:c.9057C>G | XP_011538349.1:p.Pro3019= | |
| XM_011540052.1:c.6567C>G | XP_011538354.1:p.Pro2189= | |
| NM_022124.6:c.10044C>G MANE Select | NP_071407.4:p.Pro3348= |