Linked Data
ClinVar Variation Id:
402723
ClinVar RCV Id:
RCV000455029
dbSNP Id:
rs330150
ExAC:
16:21051209 G / C
gnomAD v2:
16-21051209-G-C
gnomAD v3:
16-21039887-G-C
gnomAD v4:
16-21039887-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.21039887G>C , CM000678.2:g.21039887G>C | GRCh38 |
| NC_000016.9:g.21051209G>C , CM000678.1:g.21051209G>C | GRCh37 |
| NC_000016.8:g.20958710G>C | NCBI36 |
| NG_052617.1:g.124555C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698260.1:c.4557C>G MANE Select | ENSP00000513632.1:p.Ile1519Met | |
| ENST00000685858.1:c.4737C>G | ENSP00000508756.1:p.Ile1579Met | |
| ENST00000261383.3:c.4695C>G | ENSP00000261383.3:p.Ile1565Met | |
| ENST00000572640.5:n.1406C>G | ||
| NM_017539.2:c.4695C>G | NP_060009.1:p.Ile1565Met | |
| XM_006721062.1:c.4557C>G | XP_006721125.1:p.Ile1519Met | |
| XM_011545882.1:c.4578C>G | XP_011544184.1:p.Ile1526Met | |
| XM_011545883.1:c.4578C>G | XP_011544185.1:p.Ile1526Met | |
| XM_011545884.1:c.4335C>G | XP_011544186.1:p.Ile1445Met | |
| XM_011545885.1:c.4578C>G | XP_011544187.1:p.Ile1526Met | |
| XM_011545886.1:c.3567C>G | XP_011544188.1:p.Ile1189Met | |
| XM_011545887.1:c.2775C>G | XP_011544189.1:p.Ile925Met | |
| XM_011545888.1:c.1980C>G | XP_011544190.1:p.Ile660Met | |
| XM_011545889.1:c.1980C>G | XP_011544191.1:p.Ile660Met | |
| XM_011545890.1:c.4578C>G | XP_011544192.1:p.Ile1526Met | |
| NM_001347886.1:c.4557C>G | NP_001334815.1:p.Ile1519Met | |
| XM_011545882.2:c.4578C>G | XP_011544184.1:p.Ile1526Met | |
| XM_011545885.3:c.4578C>G | XP_011544187.1:p.Ile1526Met | |
| XM_011545886.2:c.3567C>G | XP_011544188.1:p.Ile1189Met | |
| XM_011545888.2:c.1980C>G | XP_011544190.1:p.Ile660Met | |
| XM_011545889.2:c.1980C>G | XP_011544191.1:p.Ile660Met | |
| XM_017023426.1:c.4578C>G | XP_016878915.1:p.Ile1526Met | |
| XM_017023427.1:c.4335C>G | XP_016878916.1:p.Ile1445Met | |
| XM_017023428.1:c.4578C>G | XP_016878917.1:p.Ile1526Met | |
| XM_017023429.1:c.4578C>G | XP_016878918.1:p.Ile1526Met | |
| XM_017023431.1:c.4578C>G | XP_016878920.1:p.Ile1526Met | |
| XM_017023432.1:c.4737C>G | XP_016878921.1:p.Ile1579Met | |
| NM_001347886.2:c.4557C>G MANE Select | NP_001334815.1:p.Ile1519Met |