Linked Data
ClinVar Variation Id:
2106478
ClinVar RCV Id:
RCV003045381
dbSNP Id:
rs1554873073
gnomAD v2:
8-145639796-G-A
gnomAD v4:
8-144414412-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144414412G>A , CM000670.2:g.144414412G>A | GRCh38 |
| NC_000008.10:g.145639796G>A , CM000670.1:g.145639796G>A | GRCh37 |
| NC_000008.9:g.145610604G>A | NCBI36 |
| NG_012234.2:g.7479C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301305.8:c.999C>T MANE Select | ENSP00000301305.4:p.Ala333= | |
| ENST00000276833.9:c.924C>T | ENSP00000276833.5:p.Ala308= | |
| ENST00000301305.7:c.999C>T | ENSP00000301305.3:p.Ala333= | |
| NM_017767.2:c.924C>T | NP_060237.2:p.Ala308= | |
| NM_130849.3:c.999C>T | NP_570901.2:p.Ala333= | |
| XM_006716599.1:c.999C>T | XP_006716662.1:p.Ala333= | |
| XM_011517153.1:c.717C>T | XP_011515455.1:p.Ala239= | |
| XM_024447188.1:c.717C>T | XP_024302956.1:p.Ala239= | |
| XM_024447189.1:c.717C>T | XP_024302957.1:p.Ala239= | |
| NM_001374839.1:c.717C>T | NP_001361768.1:p.Ala239= | |
| NM_017767.3:c.924C>T | NP_060237.3:p.Ala308= | |
| NM_130849.4:c.999C>T MANE Select | NP_570901.3:p.Ala333= |