Linked Data
dbSNP Id:
rs577815992
ExAC:
16:48258199 G / A
gnomAD v2:
16-48258199-G-A
gnomAD v3:
16-48224288-G-A
gnomAD v4:
16-48224288-G-A
COSMIC:
COSM970991
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.48224288G>A , CM000678.2:g.48224288G>A | GRCh38 |
| NC_000016.9:g.48258199G>A , CM000678.1:g.48258199G>A | GRCh37 |
| NC_000016.8:g.46815700G>A | NCBI36 |
| NG_011522.1:g.15890C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356608.7:c.537C>T MANE Select | ENSP00000349017.2:p.Leu179= | |
| ENST00000353782.9:c.537C>T | ENSP00000311326.6:p.Leu179= | |
| ENST00000356608.6:c.537C>T | ENSP00000349017.2:p.Leu179= | |
| ENST00000394747.5:c.537C>T | ENSP00000378230.1:p.Leu179= | |
| ENST00000394748.5:c.537C>T | ENSP00000378231.1:p.Leu179= | |
| ENST00000567385.5:n.935C>T | ||
| NM_032583.3:c.537C>T | NP_115972.2:p.Leu179= | |
| NM_033151.3:c.537C>T | NP_149163.2:p.Leu179= | |
| NM_145186.2:c.537C>T | NP_660187.1:p.Leu179= | |
| XM_011523396.1:c.339C>T | XP_011521698.1:p.Leu113= | |
| XM_017023795.2:c.537C>T | XP_016879284.1:p.Leu179= | |
| XM_017023796.2:c.537C>T | XP_016879285.1:p.Leu179= | |
| XM_017023797.2:c.537C>T | XP_016879286.1:p.Leu179= | |
| XM_017023798.2:c.537C>T | XP_016879287.1:p.Leu179= | |
| XM_017023799.2:c.537C>T | XP_016879288.1:p.Leu179= | |
| XM_017023800.2:c.537C>T | XP_016879289.1:p.Leu179= | |
| XM_017023801.2:c.537C>T | XP_016879290.1:p.Leu179= | |
| XM_017023803.1:c.537C>T | XP_016879292.1:p.Leu179= | |
| XR_001752012.1:n.3215C>T | ||
| NM_001370496.1:c.537C>T | NP_001357425.1:p.Leu179= | |
| NM_001370497.1:c.537C>T MANE Select | NP_001357426.1:p.Leu179= | |
| NM_032583.4:c.537C>T | NP_115972.2:p.Leu179= | |
| NM_033151.4:c.537C>T | NP_149163.2:p.Leu179= | |
| NM_145186.3:c.537C>T | NP_660187.1:p.Leu179= |