Linked Data
ClinVar Variation Id:
2914677
ClinVar RCV Id:
RCV003741015
dbSNP Id:
rs773724920
gnomAD v2:
1-161277067-C-G
gnomAD v4:
1-161307277-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161307277C>G , CM000663.2:g.161307277C>G | GRCh38 |
| NC_000001.10:g.161277067C>G , CM000663.1:g.161277067C>G | GRCh37 |
| NC_000001.9:g.159543691C>G | NCBI36 |
| NG_008055.1:g.7696G>C , LRG_256:g.7696G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526189.3:c.215G>C | ENSP00000488104.2:p.Gly72Ala | |
| ENST00000533357.5:c.215G>C MANE Select | ENSP00000432943.1:p.Gly72Ala | |
| ENST00000672287.2:c.-374G>C | ENSP00000499818.2:n.-374G>C | |
| ENST00000672602.2:c.215G>C | ENSP00000500814.2:p.Gly72Ala | |
| ENST00000674861.1:n.278G>C | ||
| ENST00000463290.5:c.215G>C | ENSP00000431538.1:p.Gly72Ala | |
| ENST00000491222.5:c.-374G>C | ENSP00000431441.1:n.-374G>C | |
| ENST00000533357.4:c.215G>C | ENSP00000432943.1:p.Gly72Ala | |
| NM_000530.6:c.215G>C , LRG_256t1:c.215G>C | NP_000521.2:p.Gly72Ala | |
| NM_000530.7:c.215G>C | NP_000521.2:p.Gly72Ala | |
| NM_001315491.1:c.215G>C | NP_001302420.1:p.Gly72Ala | |
| XM_017001321.2:c.245G>C | XP_016856810.1:p.Gly82Ala | |
| NM_000530.8:c.215G>C MANE Select | NP_000521.2:p.Gly72Ala | |
| NM_001315491.2:c.215G>C | NP_001302420.1:p.Gly72Ala |