Linked Data
ClinVar Variation Id:
67352
dbSNP Id:
rs199472979
gnomAD v2:
7-150648175-G-A
gnomAD v3:
7-150951087-G-A
gnomAD v4:
7-150951087-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150951087G>A , CM000669.2:g.150951087G>A | GRCh38 |
| NC_000007.13:g.150648175G>A , CM000669.1:g.150648175G>A | GRCh37 |
| NC_000007.12:g.150279108G>A | NCBI36 |
| NG_008916.1:g.31840C>T , LRG_288:g.31840C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461280.2:n.1277C>T | ||
| ENST00000683359.1:n.103C>T | ||
| ENST00000684241.1:n.2812C>T | ||
| ENST00000262186.10:c.1979C>T MANE Select | ENSP00000262186.5:p.Ser660Leu | |
| ENST00000330883.9:c.959C>T | ENSP00000328531.4:p.Ser320Leu | |
| ENST00000262186.9:c.1979C>T | ENSP00000262186.5:p.Ser660Leu | |
| ENST00000330883.8:c.959C>T | ENSP00000328531.4:p.Ser320Leu | |
| ENST00000430723.4:c.1631C>T | ENSP00000387657.4:p.Ser544Leu | |
| ENST00000461280.1:n.1266C>T | ||
| ENST00000473610.5:n.1611C>T | ||
| ENST00000532957.5:n.2202C>T | ||
| NM_000238.3:c.1979C>T , LRG_288t1:c.1979C>T | NP_000229.1:p.Ser660Leu | |
| NM_001204798.1:c.959C>T | NP_001191727.1:p.Ser320Leu | |
| NM_172056.2:c.1979C>T , LRG_288t2:c.1979C>T | NP_742053.1:p.Ser660Leu | |
| NM_172057.2:c.959C>T , LRG_288t3:c.959C>T | NP_742054.1:p.Ser320Leu | |
| XM_011516185.1:c.1679C>T | XP_011514487.1:p.Ser560Leu | |
| XM_011516186.1:c.1979C>T | XP_011514488.1:p.Ser660Leu | |
| XM_011516185.2:c.1679C>T | XP_011514487.1:p.Ser560Leu | |
| XM_011516186.3:c.1979C>T | XP_011514488.1:p.Ser660Leu | |
| XM_017012195.1:c.1829C>T | XP_016867684.1:p.Ser610Leu | |
| XM_017012196.1:c.1802C>T | XP_016867685.1:p.Ser601Leu | |
| NM_000238.4:c.1979C>T MANE Select | NP_000229.1:p.Ser660Leu | |
| NM_001204798.2:c.959C>T | NP_001191727.1:p.Ser320Leu | |
| NM_172057.3:c.959C>T | NP_742054.1:p.Ser320Leu |