Linked Data
dbSNP Id:
rs565515125
ExAC:
17:73520376 C / T
gnomAD v2:
17-73520376-C-T
gnomAD v3:
17-75524295-C-T
gnomAD v4:
17-75524295-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75524295C>T , CM000679.2:g.75524295C>T | GRCh38 |
| NC_000017.10:g.73520376C>T , CM000679.1:g.73520376C>T | GRCh37 |
| NC_000017.9:g.71031971C>T | NCBI36 |
| NG_013041.1:g.12768C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333213.11:c.1464C>T MANE Select | ENSP00000327487.6:p.Leu488= | |
| ENST00000434205.8:c.1161C>T | ENSP00000406559.4:p.Leu387= | |
| ENST00000545228.3:c.1652C>T | ENSP00000438169.3:p.Ser551Leu | |
| ENST00000577197.2:n.662C>T | ||
| ENST00000579449.2:n.2204C>T | ||
| ENST00000580013.6:n.2608C>T | ||
| ENST00000679370.1:n.2986C>T | ||
| ENST00000679429.1:c.*922C>T | ENSP00000505403.1:n.*922C>T | |
| ENST00000679443.1:n.1533C>T | ||
| ENST00000679782.1:c.*163C>T | ENSP00000505995.1:n.*163C>T | |
| ENST00000679919.1:n.1735C>T | ||
| ENST00000679928.1:c.*2016C>T | ENSP00000506071.1:n.*2016C>T | |
| ENST00000680528.1:n.2430C>T | ||
| ENST00000680999.1:c.1677C>T | ENSP00000504984.1:p.Leu559= | |
| ENST00000681282.1:c.*1651C>T | ENSP00000506339.1:n.*1651C>T | |
| ENST00000333213.10:c.1464C>T | ENSP00000327487.6:p.Leu488= | |
| ENST00000545228.2:c.741C>T | ||
| ENST00000577197.1:n.212C>T | ||
| ENST00000579449.1:n.661C>T | ||
| NM_207346.2:c.1464C>T | NP_997229.2:p.Leu488= | |
| XM_005257229.2:c.1652C>T | XP_005257286.1:p.Ser551Leu | |
| XM_006721821.2:c.1349C>T | XP_006721884.1:p.Ser450Leu | |
| XM_011524616.1:c.1535C>T | XP_011522918.1:p.Ser512Leu | |
| XM_011524617.1:c.*46C>T | XP_011522919.1:n.*46C>T | |
| XM_011524618.1:c.1347C>T | XP_011522920.1:p.Leu449= | |
| XR_243646.2:n.1696C>T | ||
| XM_005257229.4:c.1652C>T | XP_005257286.1:p.Ser551Leu | |
| XR_001753015.1:n.87+16G>A | ||
| XR_001753016.1:n.88+16G>A | ||
| XR_243646.4:n.1702C>T | ||
| NM_207346.3:c.1464C>T MANE Select | NP_997229.2:p.Leu488= |