Linked Data
ClinVar Variation Id:
1917112
ClinVar RCV Id:
RCV002598014
dbSNP Id:
rs2140667749
gnomAD v4:
15-27955179-A-G
MyVariant Identifiers:
chr15:g.28200325A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.27955179A>G , CM000677.2:g.27955179A>G | GRCh38 |
| NC_000015.9:g.28200325A>G , CM000677.1:g.28200325A>G | GRCh37 |
| NC_000015.8:g.25873920A>G | NCBI36 |
| NG_009846.1:g.149134T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354638.8:c.1821T>C MANE Select | ENSP00000346659.3:p.Asn607= | |
| ENST00000353809.9:c.1749T>C | ENSP00000261276.8:p.Asn583= | |
| ENST00000354638.7:c.1821T>C | ENSP00000346659.3:p.Asn607= | |
| NM_000275.2:c.1821T>C | NP_000266.2:p.Asn607= | |
| NM_001300984.1:c.1749T>C | NP_001287913.1:p.Asn583= | |
| XM_011521639.1:c.1845T>C | XP_011519941.1:p.Asn615= | |
| XM_011521640.1:c.1821T>C | XP_011519942.1:p.Asn607= | |
| XM_011521641.1:c.1845T>C | XP_011519943.1:p.Asn615= | |
| XM_011521642.1:c.1773T>C | XP_011519944.1:p.Asn591= | |
| XM_011521643.1:c.1773T>C | XP_011519945.1:p.Asn591= | |
| XM_011521644.1:c.1707T>C | XP_011519946.1:p.Asn569= | |
| XM_011521645.1:c.1845T>C | XP_011519947.1:p.Asn615= | |
| XM_011521646.1:c.1845T>C | XP_011519948.1:p.Asn615= | |
| XM_011521647.1:c.1845T>C | XP_011519949.1:p.Asn615= | |
| XM_011521640.2:c.1821T>C | XP_011519942.1:p.Asn607= | |
| XM_017022255.1:c.1845T>C | XP_016877744.1:p.Asn615= | |
| XM_017022256.1:c.1845T>C | XP_016877745.1:p.Asn615= | |
| XM_017022257.1:c.1773T>C | XP_016877746.1:p.Asn591= | |
| XM_017022258.1:c.1845T>C | XP_016877747.1:p.Asn615= | |
| XM_017022259.1:c.1773T>C | XP_016877748.1:p.Asn591= | |
| XM_017022260.1:c.1707T>C | XP_016877749.1:p.Asn569= | |
| XM_017022261.1:c.1650T>C | XP_016877750.1:p.Asn550= | |
| XM_017022262.1:c.1845T>C | XP_016877751.1:p.Asn615= | |
| XM_017022263.1:c.1845T>C | XP_016877752.1:p.Asn615= | |
| XM_017022264.1:c.1845T>C | XP_016877753.1:p.Asn615= | |
| XM_017022265.1:c.1845T>C | XP_016877754.1:p.Asn615= | |
| NM_000275.3:c.1821T>C MANE Select | NP_000266.2:p.Asn607= | |
| NM_001300984.2:c.1749T>C | NP_001287913.1:p.Asn583= |