Linked Data
dbSNP Id:
rs142627134
ExAC:
15:28096610 G / C
gnomAD v2:
15-28096610-G-C
gnomAD v3:
15-27851464-G-C
gnomAD v4:
15-27851464-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.27851464G>C , CM000677.2:g.27851464G>C | GRCh38 |
| NC_000015.9:g.28096610G>C , CM000677.1:g.28096610G>C | GRCh37 |
| NC_000015.8:g.25770205G>C | NCBI36 |
| NG_009846.1:g.252849C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354638.8:c.2256C>G MANE Select | ENSP00000346659.3:p.Leu752= | |
| ENST00000353809.9:c.2184C>G | ENSP00000261276.8:p.Leu728= | |
| ENST00000354638.7:c.2256C>G | ENSP00000346659.3:p.Leu752= | |
| NM_000275.2:c.2256C>G | NP_000266.2:p.Leu752= | |
| NM_001300984.1:c.2184C>G | NP_001287913.1:p.Leu728= | |
| XM_011521639.1:c.2322C>G | XP_011519941.1:p.Leu774= | |
| XM_011521640.1:c.2298C>G | XP_011519942.1:p.Leu766= | |
| XM_011521641.1:c.2280C>G | XP_011519943.1:p.Leu760= | |
| XM_011521642.1:c.2250C>G | XP_011519944.1:p.Leu750= | |
| XM_011521643.1:c.2208C>G | XP_011519945.1:p.Leu736= | |
| XM_011521644.1:c.2184C>G | XP_011519946.1:p.Leu728= | |
| XM_011521645.1:c.2115C>G | XP_011519947.1:p.Leu705= | |
| XM_011521640.2:c.2298C>G | XP_011519942.1:p.Leu766= | |
| XM_017022255.1:c.2322C>G | XP_016877744.1:p.Leu774= | |
| XM_017022256.1:c.2280C>G | XP_016877745.1:p.Leu760= | |
| XM_017022257.1:c.2250C>G | XP_016877746.1:p.Leu750= | |
| XM_017022258.1:c.2280C>G | XP_016877747.1:p.Leu760= | |
| XM_017022259.1:c.2208C>G | XP_016877748.1:p.Leu736= | |
| XM_017022260.1:c.2184C>G | XP_016877749.1:p.Leu728= | |
| XM_017022261.1:c.2127C>G | XP_016877750.1:p.Leu709= | |
| XM_017022262.1:c.2268+19690C>G | XP_016877751.1:n.2268+19690C>G | |
| XM_017022263.1:c.2115C>G | XP_016877752.1:p.Leu705= | |
| XM_017022264.1:c.2115C>G | XP_016877753.1:p.Leu705= | |
| NM_000275.3:c.2256C>G MANE Select | NP_000266.2:p.Leu752= | |
| NM_001300984.2:c.2184C>G | NP_001287913.1:p.Leu728= |