Linked Data
ClinVar Variation Id:
35915
ClinVar RCV Id:
RCV000029570
RCV000177893
RCV000368843
RCV000300080
RCV000527836
RCV001703423
RCV002276574
RCV002426520
dbSNP Id:
rs117672175
ExAC:
17:48267238 G / A
gnomAD v2:
17-48267238-G-A
gnomAD v3:
17-50189877-G-A
gnomAD v4:
17-50189877-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50189877G>A , CM000679.2:g.50189877G>A | GRCh38 |
| NC_000017.10:g.48267238G>A , CM000679.1:g.48267238G>A | GRCh37 |
| NC_000017.9:g.45622237G>A | NCBI36 |
| NG_007400.1:g.16763C>T , LRG_1:g.16763C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.2595C>T MANE Select | ENSP00000225964.6:p.Arg865= | |
| ENST00000225964.9:c.2595C>T | ENSP00000225964.5:p.Arg865= | |
| NM_000088.3:c.2595C>T , LRG_1t1:c.2595C>T | NP_000079.2:p.Arg865= | |
| XM_005257058.3:c.2595C>T | XP_005257115.2:p.Arg865= | |
| XM_005257059.3:c.1677C>T | XP_005257116.2:p.Arg559= | |
| XM_011524341.1:c.2397C>T | XP_011522643.1:p.Arg799= | |
| XM_005257058.4:c.2595C>T | XP_005257115.2:p.Arg865= | |
| XM_005257059.4:c.1677C>T | XP_005257116.2:p.Arg559= | |
| NM_000088.4:c.2595C>T MANE Select | NP_000079.2:p.Arg865= |