Linked Data
ClinVar Variation Id:
346012
dbSNP Id:
rs140371771
ExAC:
3:49169835 C / T
gnomAD v2:
3-49169835-C-T
gnomAD v3:
3-49132402-C-T
gnomAD v4:
3-49132402-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49132402C>T , CM000665.2:g.49132402C>T | GRCh38 |
| NC_000003.11:g.49169835C>T , CM000665.1:g.49169835C>T | GRCh37 |
| NC_000003.10:g.49144839C>T | NCBI36 |
| NG_008094.1:g.5765G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305544.9:c.253G>A MANE Select | ENSP00000307156.4:p.Glu85Lys | |
| ENST00000305544.8:c.253G>A | ENSP00000307156.4:p.Glu85Lys | |
| ENST00000418109.5:c.253G>A | ENSP00000388325.1:p.Glu85Lys | |
| ENST00000494831.1:c.-27-248G>A | ENSP00000444751.1:n.-27-248G>A | |
| NM_002292.3:c.253G>A | NP_002283.3:p.Glu85Lys | |
| XM_005265127.3:c.253G>A | XP_005265184.1:p.Glu85Lys | |
| XM_005265127.4:c.253G>A | XP_005265184.1:p.Glu85Lys | |
| NM_002292.4:c.253G>A MANE Select | NP_002283.3:p.Glu85Lys |