Linked Data
ClinVar Variation Id:
2587217
ClinVar RCV Id:
RCV003360742
dbSNP Id:
rs527911312
gnomAD v2:
7-150649762-C-G
gnomAD v4:
7-150952674-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150952674C>G , CM000669.2:g.150952674C>G | GRCh38 |
| NC_000007.13:g.150649762C>G , CM000669.1:g.150649762C>G | GRCh37 |
| NC_000007.12:g.150280695C>G | NCBI36 |
| NG_008916.1:g.30253G>C , LRG_288:g.30253G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461280.2:n.606G>C | ||
| ENST00000684116.1:n.201G>C | ||
| ENST00000684241.1:n.2141G>C | ||
| ENST00000262186.10:c.1308G>C MANE Select | ENSP00000262186.5:p.Thr436= | |
| ENST00000330883.9:c.288G>C | ENSP00000328531.4:p.Thr96= | |
| ENST00000262186.9:c.1308G>C | ENSP00000262186.5:p.Thr436= | |
| ENST00000330883.8:c.288G>C | ENSP00000328531.4:p.Thr96= | |
| ENST00000430723.4:c.960G>C | ENSP00000387657.4:p.Thr320= | |
| ENST00000461280.1:n.595G>C | ||
| ENST00000473610.5:n.613G>C | ||
| ENST00000532957.5:n.1531G>C | ||
| NM_000238.3:c.1308G>C , LRG_288t1:c.1308G>C | NP_000229.1:p.Thr436= | |
| NM_001204798.1:c.288G>C | NP_001191727.1:p.Thr96= | |
| NM_172056.2:c.1308G>C , LRG_288t2:c.1308G>C | NP_742053.1:p.Thr436= | |
| NM_172057.2:c.288G>C , LRG_288t3:c.288G>C | NP_742054.1:p.Thr96= | |
| XM_011516185.1:c.1008G>C | XP_011514487.1:p.Thr336= | |
| XM_011516186.1:c.1308G>C | XP_011514488.1:p.Thr436= | |
| XM_011516185.2:c.1008G>C | XP_011514487.1:p.Thr336= | |
| XM_011516186.3:c.1308G>C | XP_011514488.1:p.Thr436= | |
| XM_017012195.1:c.1158G>C | XP_016867684.1:p.Thr386= | |
| XM_017012196.1:c.1131G>C | XP_016867685.1:p.Thr377= | |
| NM_000238.4:c.1308G>C MANE Select | NP_000229.1:p.Thr436= | |
| NM_001204798.2:c.288G>C | NP_001191727.1:p.Thr96= | |
| NM_172057.3:c.288G>C | NP_742054.1:p.Thr96= |