Linked Data
ClinVar Variation Id:
67472
dbSNP Id:
rs199473024
ExAC:
7:150644450 T / C
gnomAD v2:
7-150644450-T-C
gnomAD v3:
7-150947362-T-C
gnomAD v4:
7-150947362-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150947362T>C , CM000669.2:g.150947362T>C | GRCh38 |
| NC_000007.13:g.150644450T>C , CM000669.1:g.150644450T>C | GRCh37 |
| NC_000007.12:g.150275383T>C | NCBI36 |
| NG_008916.1:g.35565A>G , LRG_288:g.35565A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000684241.1:n.3951A>G | ||
| ENST00000262186.10:c.3118A>G MANE Select | ENSP00000262186.5:p.Ser1040Gly | |
| ENST00000330883.9:c.2098A>G | ENSP00000328531.4:p.Ser700Gly | |
| ENST00000262186.9:c.3118A>G | ENSP00000262186.5:p.Ser1040Gly | |
| ENST00000330883.8:c.2098A>G | ENSP00000328531.4:p.Ser700Gly | |
| NM_000238.3:c.3118A>G , LRG_288t1:c.3118A>G | NP_000229.1:p.Ser1040Gly | |
| NM_172057.2:c.2098A>G , LRG_288t3:c.2098A>G | NP_742054.1:p.Ser700Gly | |
| XM_011516185.1:c.2818A>G | XP_011514487.1:p.Ser940Gly | |
| XM_011516185.2:c.2818A>G | XP_011514487.1:p.Ser940Gly | |
| XM_017012195.1:c.2968A>G | XP_016867684.1:p.Ser990Gly | |
| XM_017012196.1:c.2941A>G | XP_016867685.1:p.Ser981Gly | |
| NM_000238.4:c.3118A>G MANE Select | NP_000229.1:p.Ser1040Gly | |
| NM_172057.3:c.2098A>G | NP_742054.1:p.Ser700Gly |