Linked Data
ClinVar Variation Id:
551503
dbSNP Id:
rs62653610
ExAC:
6:137193373 C / T
gnomAD v2:
6-137193373-C-T
gnomAD v3:
6-136872235-C-T
gnomAD v4:
6-136872235-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.136872235C>T , CM000668.2:g.136872235C>T | GRCh38 |
| NC_000006.11:g.137193373C>T , CM000668.1:g.137193373C>T | GRCh37 |
| NC_000006.10:g.137235066C>T | NCBI36 |
| NG_008462.1:g.54656C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318471.5:c.785C>T MANE Select | ENSP00000315680.3:p.Ser262Leu | |
| ENST00000541292.6:c.*50C>T | ENSP00000441004.1:n.*50C>T | |
| ENST00000678002.1:c.473C>T | ||
| ENST00000678557.1:c.671C>T | ENSP00000502962.1:p.Ser224Leu | |
| ENST00000678593.1:c.790C>T | ENSP00000503841.1:n.790C>T | |
| ENST00000679286.1:c.665C>T | ENSP00000503168.1:p.Ser222Leu | |
| ENST00000318471.4:c.785C>T | ENSP00000315680.3:p.Ser262Leu | |
| NM_000288.3:c.785C>T | NP_000279.1:p.Ser262Leu | |
| XM_005267019.3:c.671C>T | XP_005267076.1:p.Ser224Leu | |
| XM_006715502.1:c.491C>T | XP_006715565.1:p.Ser164Leu | |
| XM_011535900.1:c.527-25907C>T | XP_011534202.1:n.527-25907C>T | |
| XM_005267019.4:c.671C>T | XP_005267076.1:p.Ser224Leu | |
| XM_006715502.2:c.491C>T | XP_006715565.1:p.Ser164Leu | |
| XM_017010934.2:c.527-25907C>T | XP_016866423.1:n.527-25907C>T | |
| NM_000288.4:c.785C>T MANE Select | NP_000279.1:p.Ser262Leu |