Linked Data
ClinVar Variation Id:
3048024
ClinVar RCV Id:
RCV003951853
dbSNP Id:
rs189970623
ExAC:
19:41515273 C / T
gnomAD v2:
19-41515273-C-T
gnomAD v3:
19-41009368-C-T
gnomAD v4:
19-41009368-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41009368C>T , CM000681.2:g.41009368C>T | GRCh38 |
| NC_000019.9:g.41515273C>T , CM000681.1:g.41515273C>T | GRCh37 |
| NC_000019.8:g.46207113C>T | NCBI36 |
| NG_007929.1:g.23070C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000324071.10:c.795C>T MANE Select | ENSP00000324648.2:p.Ile265= | |
| ENST00000598834.2:c.819C>T | ||
| ENST00000324071.8:c.795C>T | ENSP00000324648.2:p.Ile265= | |
| ENST00000593831.1:c.257-2930C>T | ENSP00000470582.1:n.257-2930C>T | |
| NM_000767.4:c.795C>T | NP_000758.1:p.Ile265= | |
| XM_005258569.3:c.795C>T | XP_005258626.1:p.Ile265= | |
| XM_006723050.2:c.795C>T | XP_006723113.1:p.Ile265= | |
| XM_011526546.1:c.795C>T | XP_011524848.1:p.Ile265= | |
| XM_011526547.1:c.795C>T | XP_011524849.1:p.Ile265= | |
| XM_011526548.1:c.485-2930C>T | XP_011524850.1:n.485-2930C>T | |
| XM_011526549.1:c.204C>T | XP_011524851.1:p.Ile68= | |
| XM_011526550.1:c.365-2930C>T | XP_011524852.1:n.365-2930C>T | |
| NM_000767.5:c.795C>T MANE Select | NP_000758.1:p.Ile265= |