Linked Data
ClinVar Variation Id:
67474
ClinVar RCV Id:
RCV000058203
dbSNP Id:
rs199473026
gnomAD v4:
7-150947334-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150947334A>G , CM000669.2:g.150947334A>G | GRCh38 |
| NC_000007.13:g.150644422A>G , CM000669.1:g.150644422A>G | GRCh37 |
| NC_000007.12:g.150275355A>G | NCBI36 |
| NG_008916.1:g.35593T>C , LRG_288:g.35593T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.3979T>C | ||
| ENST00000262186.10:c.3146T>C MANE Select | ENSP00000262186.5:p.Leu1049Pro | |
| ENST00000330883.9:c.2126T>C | ENSP00000328531.4:p.Leu709Pro | |
| ENST00000262186.9:c.3146T>C | ENSP00000262186.5:p.Leu1049Pro | |
| ENST00000330883.8:c.2126T>C | ENSP00000328531.4:p.Leu709Pro | |
| NM_000238.3:c.3146T>C , LRG_288t1:c.3146T>C | NP_000229.1:p.Leu1049Pro | |
| NM_172057.2:c.2126T>C , LRG_288t3:c.2126T>C | NP_742054.1:p.Leu709Pro | |
| XM_011516185.1:c.2846T>C | XP_011514487.1:p.Leu949Pro | |
| XM_011516185.2:c.2846T>C | XP_011514487.1:p.Leu949Pro | |
| XM_017012195.1:c.2996T>C | XP_016867684.1:p.Leu999Pro | |
| XM_017012196.1:c.2969T>C | XP_016867685.1:p.Leu990Pro | |
| NM_000238.4:c.3146T>C MANE Select | NP_000229.1:p.Leu1049Pro | |
| NM_172057.3:c.2126T>C | NP_742054.1:p.Leu709Pro |