Linked Data
ClinVar Variation Id:
16340
dbSNP Id:
rs4647924
gnomAD v2:
4-1803571-C-G
gnomAD v3:
4-1801844-C-G
gnomAD v4:
4-1801844-C-G
PubMed:
PMID:1956068
PMID:4078868
PMID:7670477
PMID:7847369
PMID:8723106
PMID:8841188
PMID:8845844
PMID:9042914
PMID:9107244
PMID:9279753
PMID:9279764
PMID:9450868
PMID:9525367
PMID:9580776
PMID:9585583
PMID:9600744
PMID:9677066
PMID:9843059
PMID:9950359
PMID:10053006
PMID:10094188
PMID:10213050
PMID:10602123
PMID:10777366
PMID:11424131
PMID:11746040
PMID:12707965
PMID:14613973
PMID:15241680
PMID:16501574
PMID:17033969
PMID:17935505
PMID:17950653
PMID:18000976
PMID:18328977
PMID:18344207
PMID:19098178
PMID:19215249
PMID:19449410
PMID:22045636
PMID:22604720
PMID:23378035
PMID:23740942
PMID:24728327
PMID:24864036
PMID:25356217
PMID:25931420
PMID:26028288
PMID:26740388
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1801844C>G , CM000666.2:g.1801844C>G | GRCh38 |
| NC_000004.11:g.1803571C>G , CM000666.1:g.1803571C>G | GRCh37 |
| NC_000004.10:g.1773369C>G | NCBI36 |
| NG_012632.1:g.13533C>G , LRG_1021:g.13533C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000340107.9:c.749C>G | ENSP00000339824.4:p.Pro250Arg | |
| ENST00000260795.8:c.749C>G | ENSP00000260795.3:p.Pro250Arg | |
| ENST00000352904.6:c.749C>G | ENSP00000231803.1:p.Pro250Arg | |
| ENST00000412135.7:c.737C>G | ENSP00000412903.3:p.Pro246Arg | |
| ENST00000440486.8:c.749C>G MANE Select | ENSP00000414914.2:p.Pro250Arg | |
| ENST00000481110.7:c.749C>G | ENSP00000420533.2:p.Pro250Arg | |
| ENST00000260795.6:c.749C>G | ENSP00000260795.2:p.Pro250Arg | |
| ENST00000340107.8:c.749C>G | ENSP00000339824.4:p.Pro250Arg | |
| ENST00000352904.5:c.749C>G | ENSP00000231803.1:p.Pro250Arg | |
| ENST00000412135.6:c.749C>G | ENSP00000412903.2:p.Pro250Arg | |
| ENST00000440486.6:c.749C>G | ENSP00000414914.2:p.Pro250Arg | |
| ENST00000474521.1:n.125C>G | ||
| ENST00000481110.6:c.749C>G | ENSP00000420533.2:p.Pro250Arg | |
| ENST00000507588.1:c.209C>G | ENSP00000427289.1:p.Pro70Arg | |
| ENST00000613647.4:c.749C>G | ENSP00000479472.1:p.Pro250Arg | |
| NM_000142.4:c.749C>G , LRG_1021t1:c.749C>G | NP_000133.1:p.Pro250Arg | |
| NM_001163213.1:c.749C>G , LRG_1021t2:c.749C>G | NP_001156685.1:p.Pro250Arg | |
| NM_022965.3:c.749C>G | NP_075254.1:p.Pro250Arg | |
| XM_006713868.1:c.749C>G | XP_006713931.1:p.Pro250Arg | |
| XM_006713869.1:c.749C>G | XP_006713932.1:p.Pro250Arg | |
| XM_006713870.1:c.749C>G | XP_006713933.1:p.Pro250Arg | |
| XM_006713871.1:c.749C>G | XP_006713934.1:p.Pro250Arg | |
| XM_006713872.1:c.749C>G | XP_006713935.1:p.Pro250Arg | |
| XM_006713873.1:c.749C>G | XP_006713936.1:p.Pro250Arg | |
| XM_011513420.1:c.749C>G | XP_011511722.1:p.Pro250Arg | |
| XM_011513422.1:c.749C>G | XP_011511724.1:p.Pro250Arg | |
| NM_001354809.1:c.749C>G | NP_001341738.1:p.Pro250Arg | |
| NM_001354810.1:c.749C>G | NP_001341739.1:p.Pro250Arg | |
| NR_148971.1:n.1005C>G | ||
| NM_001354809.2:c.749C>G | NP_001341738.1:p.Pro250Arg | |
| NM_001354810.2:c.749C>G | NP_001341739.1:p.Pro250Arg | |
| NR_148971.2:n.1024C>G | ||
| NM_000142.5:c.749C>G MANE Select | NP_000133.1:p.Pro250Arg | |
| NM_001163213.2:c.749C>G | NP_001156685.1:p.Pro250Arg | |
| NM_022965.4:c.749C>G | NP_075254.1:p.Pro250Arg |