Linked Data
ClinVar Variation Id:
2789987
ClinVar RCV Id:
RCV003647279
dbSNP Id:
rs747313232
gnomAD v3:
7-150957484-C-G
gnomAD v4:
7-150957484-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150957484C>G , CM000669.2:g.150957484C>G | GRCh38 |
| NC_000007.13:g.150654572C>G , CM000669.1:g.150654572C>G | GRCh37 |
| NC_000007.12:g.150285505C>G | NCBI36 |
| NG_008916.1:g.25443G>C , LRG_288:g.25443G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.1768G>C | ||
| ENST00000262186.10:c.935G>C MANE Select | ENSP00000262186.5:p.Arg312Pro | |
| ENST00000262186.9:c.935G>C | ENSP00000262186.5:p.Arg312Pro | |
| ENST00000430723.4:c.587G>C | ENSP00000387657.4:p.Arg196Pro | |
| ENST00000532957.5:n.1158G>C | ||
| NM_000238.3:c.935G>C , LRG_288t1:c.935G>C | NP_000229.1:p.Arg312Pro | |
| NM_172056.2:c.935G>C , LRG_288t2:c.935G>C | NP_742053.1:p.Arg312Pro | |
| XM_011516185.1:c.635G>C | XP_011514487.1:p.Arg212Pro | |
| XM_011516186.1:c.935G>C | XP_011514488.1:p.Arg312Pro | |
| XM_011516185.2:c.635G>C | XP_011514487.1:p.Arg212Pro | |
| XM_011516186.3:c.935G>C | XP_011514488.1:p.Arg312Pro | |
| XM_017012195.1:c.785G>C | XP_016867684.1:p.Arg262Pro | |
| XM_017012196.1:c.758G>C | XP_016867685.1:p.Arg253Pro | |
| NM_000238.4:c.935G>C MANE Select | NP_000229.1:p.Arg312Pro |