Linked Data
ClinVar Variation Id:
12341
ClinVar RCV Id:
RCV000013134
dbSNP Id:
rs4149584
gnomAD v2:
12-6442643-C-G
gnomAD v3:
12-6333477-C-G
gnomAD v4:
12-6333477-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6333477C>G , CM000674.2:g.6333477C>G | GRCh38 |
| NC_000012.11:g.6442643C>G , CM000674.1:g.6442643C>G | GRCh37 |
| NC_000012.10:g.6312904C>G | NCBI36 |
| NG_007506.1:g.13619G>C , LRG_193:g.13619G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366159.9:n.396G>C | ||
| ENST00000437813.8:c.362G>C | ENSP00000513672.1:p.Arg121Pro | |
| ENST00000440083.7:c.362G>C | ENSP00000413224.3:p.Arg121Pro | |
| ENST00000535958.2:c.*189G>C | ENSP00000513673.1:n.*189G>C | |
| ENST00000698339.1:c.362G>C | ENSP00000513670.1:p.Arg121Pro | |
| ENST00000698340.1:c.362G>C | ENSP00000513671.1:p.Arg121Pro | |
| ENST00000162749.7:c.362G>C MANE Select | ENSP00000162749.2:p.Arg121Pro | |
| ENST00000162749.6:c.362G>C | ENSP00000162749.2:p.Arg121Pro | |
| ENST00000366159.8:c.362G>C | ENSP00000380389.3:p.Arg121Pro | |
| ENST00000437813.7:n.323G>C | ||
| ENST00000440083.6:c.362G>C | ENSP00000413224.2:p.Arg121Pro | |
| ENST00000534885.5:c.208G>C | ENSP00000441803.1:p.Gly70Arg | |
| ENST00000536194.1:c.335G>C | ENSP00000442919.1:p.Arg112Pro | |
| ENST00000539372.5:c.362G>C | ENSP00000442059.1:p.Arg121Pro | |
| ENST00000540022.5:c.233G>C | ENSP00000438343.1:p.Arg78Pro | |
| ENST00000543048.5:c.215-26G>C | ENSP00000439981.1:n.215-26G>C | |
| ENST00000543995.5:c.194-26G>C | ENSP00000442405.1:n.194-26G>C | |
| NM_001065.3:c.362G>C , LRG_193t1:c.362G>C | NP_001056.1:p.Arg121Pro | |
| NM_001346091.1:c.38G>C | NP_001333020.1:p.Arg13Pro | |
| NM_001346092.1:c.-216G>C | NP_001333021.1:n.-216G>C | |
| NR_144351.1:n.665G>C | ||
| NM_001065.4:c.362G>C MANE Select | NP_001056.1:p.Arg121Pro | |
| NM_001346091.2:c.38G>C | NP_001333020.1:p.Arg13Pro | |
| NM_001346092.2:c.-216G>C | NP_001333021.1:n.-216G>C | |
| NR_144351.2:n.624G>C |