Linked Data
ClinVar Variation Id:
376416
ClinVar RCV Id:
RCV000417428
RCV000422698
RCV000424610
RCV000424801
RCV000428799
RCV000427741
RCV000435527
RCV000418970
RCV000433446
RCV000436201
RCV000434066
RCV000440831
RCV000442912
RCV000443932
dbSNP Id:
rs1057519895
gnomAD v4:
4-152328232-C-G
PubMed:
PMID:26619011
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.152328232C>G , CM000666.2:g.152328232C>G | GRCh38 |
| NC_000004.11:g.153249384C>G , CM000666.1:g.153249384C>G | GRCh37 |
| NC_000004.10:g.153468834C>G | NCBI36 |
| NG_029466.1:g.211789G>C | |
| NG_029466.2:g.213642G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703551.1:c.*87G>C | ENSP00000515367.1:n.*87G>C | |
| ENST00000703552.1:c.893G>C | ENSP00000515368.1:p.Arg298Pro | |
| ENST00000703553.1:c.1394G>C | ENSP00000515369.1:p.Arg465Pro | |
| ENST00000703554.1:c.*1041G>C | ENSP00000515370.1:n.*1041G>C | |
| ENST00000703555.1:c.*370G>C | ENSP00000515371.1:n.*370G>C | |
| ENST00000281708.10:c.1394G>C MANE Select | ENSP00000281708.3:p.Arg465Pro | |
| ENST00000296555.11:c.1040G>C | ENSP00000296555.4:p.Arg347Pro | |
| ENST00000393956.9:c.1154G>C | ENSP00000377528.4:p.Arg385Pro | |
| ENST00000603548.6:c.1394G>C | ENSP00000474725.1:p.Arg465Pro | |
| ENST00000647183.1:n.943G>C | ||
| ENST00000263981.9:c.1154G>C | ENSP00000263981.4:p.Arg385Pro | |
| ENST00000281708.8:c.1394G>C | ENSP00000281708.3:p.Arg465Pro | |
| ENST00000296555.9:c.1040G>C | ENSP00000296555.4:p.Arg347Pro | |
| ENST00000393956.7:c.866G>C | ENSP00000377528.3:p.Arg289Pro | |
| ENST00000603548.5:c.1394G>C | ENSP00000474725.1:p.Arg465Pro | |
| ENST00000603821.1:n.842G>C | ||
| ENST00000603841.1:c.1394G>C | ENSP00000474971.1:p.Arg465Pro | |
| ENST00000604069.1:n.581G>C | ||
| NM_001013415.1:c.1040G>C | NP_001013433.1:p.Arg347Pro | |
| NM_018315.4:c.1154G>C | NP_060785.2:p.Arg385Pro | |
| NM_033632.3:c.1394G>C | NP_361014.1:p.Arg465Pro | |
| XM_011532083.1:c.1394G>C | XP_011530385.1:p.Arg465Pro | |
| XM_011532084.1:c.1394G>C | XP_011530386.1:p.Arg465Pro | |
| XM_011532085.1:c.1394G>C | XP_011530387.1:p.Arg465Pro | |
| XM_011532086.1:c.1310G>C | XP_011530388.1:p.Arg437Pro | |
| XM_011532087.1:c.1310G>C | XP_011530389.1:p.Arg437Pro | |
| XM_011532088.1:c.893G>C | XP_011530390.1:p.Arg298Pro | |
| NM_001013415.2:c.1040G>C | NP_001013433.1:p.Arg347Pro | |
| NM_001349798.2:c.1394G>C MANE Select | NP_001336727.1:p.Arg465Pro | |
| NM_018315.5:c.1154G>C | NP_060785.2:p.Arg385Pro | |
| XM_011532084.2:c.1394G>C | XP_011530386.1:p.Arg465Pro | |
| XM_011532085.2:c.1394G>C | XP_011530387.1:p.Arg465Pro | |
| XM_011532086.2:c.1310G>C | XP_011530388.1:p.Arg437Pro | |
| XM_011532087.2:c.1310G>C | XP_011530389.1:p.Arg437Pro | |
| XM_011532088.2:c.893G>C | XP_011530390.1:p.Arg298Pro | |
| XM_024454121.1:c.1394G>C | XP_024309889.1:p.Arg465Pro | |
| XM_024454122.1:c.1394G>C | XP_024309890.1:p.Arg465Pro | |
| XM_024454123.1:c.1394G>C | XP_024309891.1:p.Arg465Pro | |
| XM_024454124.1:c.1394G>C | XP_024309892.1:p.Arg465Pro | |
| XM_024454125.1:c.1310G>C | XP_024309893.1:p.Arg437Pro | |
| XM_024454126.1:c.893G>C | XP_024309894.1:p.Arg298Pro |