Linked Data
dbSNP Id:
rs1361608973
gnomAD v2:
17-29283399-C-T
gnomAD v3:
17-30956381-C-T
gnomAD v4:
17-30956381-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.30956381C>T , CM000679.2:g.30956381C>T | GRCh38 |
| NC_000017.10:g.29283399C>T , CM000679.1:g.29283399C>T | GRCh37 |
| NC_000017.9:g.26307525C>T | NCBI36 |
| NG_051975.1:g.39646C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330889.8:c.1023C>T MANE Select | ENSP00000329468.3:p.Leu341= | |
| ENST00000330889.7:c.1023C>T | ENSP00000329468.3:p.Leu341= | |
| ENST00000470962.1:n.443C>T | ||
| ENST00000480980.1:n.457C>T | ||
| ENST00000580525.5:c.1041C>T | ENSP00000464121.1:p.Leu347= | |
| ENST00000581285.5:c.939C>T | ENSP00000464155.1:p.Leu313= | |
| ENST00000584828.5:c.392C>T | ||
| ENST00000585130.5:c.*622C>T | ENSP00000464120.1:n.*622C>T | |
| NM_018404.2:c.1023C>T | NP_060874.1:p.Leu341= | |
| XM_005258008.2:c.1041C>T | XP_005258065.1:p.Leu347= | |
| XM_005258011.2:c.978C>T | XP_005258068.1:p.Leu326= | |
| XM_006721973.2:c.1041C>T | XP_006722036.1:p.Leu347= | |
| XM_011524993.1:c.1038C>T | XP_011523295.1:p.Leu346= | |
| XM_011524994.1:c.1020C>T | XP_011523296.1:p.Leu340= | |
| NM_001346712.1:c.1041C>T | NP_001333641.1:p.Leu347= | |
| NM_001346714.1:c.1020C>T | NP_001333643.1:p.Leu340= | |
| NM_001346716.1:c.1023C>T | NP_001333645.1:p.Leu341= | |
| NR_144488.1:n.1222C>T | ||
| XM_024450831.1:c.1023C>T | XP_024306599.1:p.Leu341= | |
| XM_024450832.1:c.1038C>T | XP_024306600.1:p.Leu346= | |
| XM_024450833.1:c.978C>T | XP_024306601.1:p.Leu326= | |
| XM_024450834.1:c.1041C>T | XP_024306602.1:p.Leu347= | |
| XM_024450835.1:c.657C>T | XP_024306603.1:p.Leu219= | |
| NM_018404.3:c.1023C>T MANE Select | NP_060874.1:p.Leu341= | |
| NM_001346712.2:c.1041C>T | NP_001333641.1:p.Leu347= | |
| NM_001346714.2:c.1020C>T | NP_001333643.1:p.Leu340= | |
| NM_001346716.2:c.1023C>T | NP_001333645.1:p.Leu341= | |
| NR_144488.2:n.1013C>T |