Linked Data
ClinVar Variation Id:
255130
ClinVar RCV Id:
RCV000253229
RCV000886985
RCV001156843
RCV001156844
RCV001156845
RCV001156846
RCV001156847
RCV001552260
dbSNP Id:
rs886038240
gnomAD v2:
5-149360350-A-T
gnomAD v3:
5-149980787-A-T
gnomAD v4:
5-149980787-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149980787A>T , CM000667.2:g.149980787A>T | GRCh38 |
| NC_000005.9:g.149360350A>T , CM000667.1:g.149360350A>T | GRCh37 |
| NC_000005.8:g.149340543A>T | NCBI36 |
| NG_007147.2:g.21905A>T , LRG_684:g.21905A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286298.5:c.1194A>T MANE Select | ENSP00000286298.4:p.Val398= | |
| ENST00000286298.4:c.1194A>T | ENSP00000286298.4:p.Val398= | |
| ENST00000503336.1:c.372+2436A>T | ENSP00000426053.1:n.372+2436A>T | |
| NM_000112.3:c.1194A>T , LRG_684t1:c.1194A>T | NP_000103.2:p.Val398= | |
| XM_017009191.2:c.1194A>T | XP_016864680.1:p.Val398= | |
| NM_000112.4:c.1194A>T MANE Select | NP_000103.2:p.Val398= |