Linked Data
ClinVar Variation Id:
2983554
ClinVar RCV Id:
RCV003840649
dbSNP Id:
rs916754925
gnomAD v2:
7-150644929-C-G
gnomAD v4:
7-150947841-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150947841C>G , CM000669.2:g.150947841C>G | GRCh38 |
| NC_000007.13:g.150644929C>G , CM000669.1:g.150644929C>G | GRCh37 |
| NC_000007.12:g.150275862C>G | NCBI36 |
| NG_008916.1:g.35086G>C , LRG_288:g.35086G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.3563G>C | ||
| ENST00000262186.10:c.2730G>C MANE Select | ENSP00000262186.5:p.Pro910= | |
| ENST00000330883.9:c.1710G>C | ENSP00000328531.4:p.Pro570= | |
| ENST00000262186.9:c.2730G>C | ENSP00000262186.5:p.Pro910= | |
| ENST00000330883.8:c.1710G>C | ENSP00000328531.4:p.Pro570= | |
| NM_000238.3:c.2730G>C , LRG_288t1:c.2730G>C | NP_000229.1:p.Pro910= | |
| NM_172057.2:c.1710G>C , LRG_288t3:c.1710G>C | NP_742054.1:p.Pro570= | |
| XM_011516185.1:c.2430G>C | XP_011514487.1:p.Pro810= | |
| XM_011516186.1:c.2693-150G>C | XP_011514488.1:n.2693-150G>C | |
| XM_011516185.2:c.2430G>C | XP_011514487.1:p.Pro810= | |
| XM_011516186.3:c.2693-150G>C | XP_011514488.1:n.2693-150G>C | |
| XM_017012195.1:c.2580G>C | XP_016867684.1:p.Pro860= | |
| XM_017012196.1:c.2553G>C | XP_016867685.1:p.Pro851= | |
| NM_000238.4:c.2730G>C MANE Select | NP_000229.1:p.Pro910= | |
| NM_172057.3:c.1710G>C | NP_742054.1:p.Pro570= |