Linked Data
ClinVar Variation Id:
725435
ClinVar RCV Id:
RCV000899493
dbSNP Id:
rs189457419
ExAC:
7:150643974 C / G
gnomAD v2:
7-150643974-C-G
gnomAD v4:
7-150946886-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150946886C>G , CM000669.2:g.150946886C>G | GRCh38 |
| NC_000007.13:g.150643974C>G , CM000669.1:g.150643974C>G | GRCh37 |
| NC_000007.12:g.150274907C>G | NCBI36 |
| NG_008916.1:g.36041G>C , LRG_288:g.36041G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.4154G>C | ||
| ENST00000262186.10:c.3321G>C MANE Select | ENSP00000262186.5:p.Ser1107= | |
| ENST00000330883.9:c.2301G>C | ENSP00000328531.4:p.Ser767= | |
| ENST00000262186.9:c.3321G>C | ENSP00000262186.5:p.Ser1107= | |
| ENST00000330883.8:c.2301G>C | ENSP00000328531.4:p.Ser767= | |
| NM_000238.3:c.3321G>C , LRG_288t1:c.3321G>C | NP_000229.1:p.Ser1107= | |
| NM_172057.2:c.2301G>C , LRG_288t3:c.2301G>C | NP_742054.1:p.Ser767= | |
| XM_011516185.1:c.3021G>C | XP_011514487.1:p.Ser1007= | |
| XM_011516185.2:c.3021G>C | XP_011514487.1:p.Ser1007= | |
| XM_017012195.1:c.3171G>C | XP_016867684.1:p.Ser1057= | |
| XM_017012196.1:c.3144G>C | XP_016867685.1:p.Ser1048= | |
| NM_000238.4:c.3321G>C MANE Select | NP_000229.1:p.Ser1107= | |
| NM_172057.3:c.2301G>C | NP_742054.1:p.Ser767= |