Linked Data
ClinVar Variation Id:
1460694
ClinVar RCV Id:
RCV001963381
dbSNP Id:
rs779938295
gnomAD v4:
15-27926207-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.27926207T>C , CM000677.2:g.27926207T>C | GRCh38 |
| NC_000015.9:g.28171353T>C , CM000677.1:g.28171353T>C | GRCh37 |
| NC_000015.8:g.25844948T>C | NCBI36 |
| NG_009846.1:g.178106A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354638.8:c.1999A>G MANE Select | ENSP00000346659.3:p.Ile667Val | |
| ENST00000353809.9:c.1927A>G | ENSP00000261276.8:p.Ile643Val | |
| ENST00000354638.7:c.1999A>G | ENSP00000346659.3:p.Ile667Val | |
| NM_000275.2:c.1999A>G | NP_000266.2:p.Ile667Val | |
| NM_001300984.1:c.1927A>G | NP_001287913.1:p.Ile643Val | |
| XM_011521639.1:c.2023A>G | XP_011519941.1:p.Ile675Val | |
| XM_011521640.1:c.1999A>G | XP_011519942.1:p.Ile667Val | |
| XM_011521641.1:c.2023A>G | XP_011519943.1:p.Ile675Val | |
| XM_011521642.1:c.1951A>G | XP_011519944.1:p.Ile651Val | |
| XM_011521643.1:c.1951A>G | XP_011519945.1:p.Ile651Val | |
| XM_011521644.1:c.1885A>G | XP_011519946.1:p.Ile629Val | |
| XM_011521645.1:c.2023A>G | XP_011519947.1:p.Ile675Val | |
| XM_011521640.2:c.1999A>G | XP_011519942.1:p.Ile667Val | |
| XM_017022255.1:c.2023A>G | XP_016877744.1:p.Ile675Val | |
| XM_017022256.1:c.2023A>G | XP_016877745.1:p.Ile675Val | |
| XM_017022257.1:c.1951A>G | XP_016877746.1:p.Ile651Val | |
| XM_017022258.1:c.2023A>G | XP_016877747.1:p.Ile675Val | |
| XM_017022259.1:c.1951A>G | XP_016877748.1:p.Ile651Val | |
| XM_017022260.1:c.1885A>G | XP_016877749.1:p.Ile629Val | |
| XM_017022261.1:c.1828A>G | XP_016877750.1:p.Ile610Val | |
| XM_017022262.1:c.2023A>G | XP_016877751.1:p.Ile675Val | |
| XM_017022263.1:c.2023A>G | XP_016877752.1:p.Ile675Val | |
| XM_017022264.1:c.2023A>G | XP_016877753.1:p.Ile675Val | |
| NM_000275.3:c.1999A>G MANE Select | NP_000266.2:p.Ile667Val | |
| NM_001300984.2:c.1927A>G | NP_001287913.1:p.Ile643Val |