Linked Data
dbSNP Id:
rs770077586
ExAC:
5:32000273 C / T
gnomAD v2:
5-32000273-C-T
gnomAD v4:
5-32000167-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.32000167C>T , CM000667.2:g.32000167C>T | GRCh38 |
| NC_000005.9:g.32000273C>T , CM000667.1:g.32000273C>T | GRCh37 |
| NC_000005.8:g.32036030C>T | NCBI36 |
| NG_033962.1:g.206244C>T | |
| NG_033962.2:g.365758C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000438447.2:c.1150C>T MANE Select | ENSP00000402033.1:p.Leu384= | |
| ENST00000438447.1:c.1150C>T | ENSP00000402033.1:p.Leu384= | |
| ENST00000502489.5:n.906C>T | ||
| NM_178140.2:c.1150C>T | NP_835260.2:p.Leu384= | |
| XM_005248269.3:c.1150C>T | XP_005248326.1:p.Leu384= | |
| XM_005248270.3:c.1150C>T | XP_005248327.1:p.Leu384= | |
| XM_005248271.1:c.628C>T | XP_005248328.1:p.Leu210= | |
| XM_005248272.3:c.628C>T | XP_005248329.1:p.Leu210= | |
| XM_006714460.2:c.157C>T | XP_006714523.1:p.Leu53= | |
| XM_011513992.1:c.1150C>T | XP_011512294.1:p.Leu384= | |
| XM_011513993.1:c.1150C>T | XP_011512295.1:p.Leu384= | |
| XM_011513994.1:c.1150C>T | XP_011512296.1:p.Leu384= | |
| XM_011513995.1:c.1150C>T | XP_011512297.1:p.Leu384= | |
| XM_011513996.1:c.979-10163C>T | XP_011512298.1:n.979-10163C>T | |
| XM_011513997.1:c.1150C>T | XP_011512299.1:p.Leu384= | |
| NM_178140.3:c.1150C>T | NP_835260.2:p.Leu384= | |
| XM_005248269.4:c.1150C>T | XP_005248326.1:p.Leu384= | |
| XM_005248272.4:c.628C>T | XP_005248329.1:p.Leu210= | |
| XM_011513992.2:c.1150C>T | XP_011512294.1:p.Leu384= | |
| XM_011513993.2:c.1150C>T | XP_011512295.1:p.Leu384= | |
| XM_011513994.2:c.1150C>T | XP_011512296.1:p.Leu384= | |
| XM_011513995.2:c.1150C>T | XP_011512297.1:p.Leu384= | |
| XM_011513996.2:c.979-10163C>T | XP_011512298.1:n.979-10163C>T | |
| XM_017009245.1:c.457-10163C>T | XP_016864734.1:n.457-10163C>T | |
| XM_017009246.1:c.157C>T | XP_016864735.1:p.Leu53= | |
| NM_178140.4:c.1150C>T MANE Select | NP_835260.2:p.Leu384= |