Linked Data
ClinVar Variation Id:
888578
ClinVar RCV Id:
RCV001121986
dbSNP Id:
rs967569458
gnomAD v4:
17-47946923-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47946923C>T , CM000679.2:g.47946923C>T | GRCh38 |
| NC_000017.10:g.46024289C>T , CM000679.1:g.46024289C>T | GRCh37 |
| NC_000017.9:g.43379288C>T | NCBI36 |
| NG_008744.1:g.10401C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225573.5:c.*141C>T | ENSP00000225573.5:n.*141C>T | |
| ENST00000434554.7:c.*141C>T | ENSP00000399960.3:n.*141C>T | |
| ENST00000582171.6:c.*592C>T | ENSP00000463994.1:n.*592C>T | |
| ENST00000584806.2:n.596C>T | ||
| ENST00000641305.1:n.2426C>T | ||
| ENST00000641323.1:c.*946C>T | ENSP00000492965.1:n.*946C>T | |
| ENST00000641427.1:n.927C>T | ||
| ENST00000641703.1:c.643C>T | ENSP00000493219.1:n.643C>T | |
| ENST00000641709.1:c.*749C>T | ENSP00000493349.1:n.*749C>T | |
| ENST00000641856.1:c.*1435C>T | ENSP00000493224.1:n.*1435C>T | |
| ENST00000642017.2:c.*141C>T MANE Select | ENSP00000493302.2:n.*141C>T | |
| ENST00000225573.4:c.*141C>T | ENSP00000225573.4:n.*141C>T | |
| ENST00000434554.6:c.*141C>T | ENSP00000399960.2:n.*141C>T | |
| ENST00000582171.5:c.*592C>T | ENSP00000463994.1:n.*592C>T | |
| NM_018129.3:c.*141C>T | NP_060599.1:n.*141C>T | |
| XM_005257500.2:c.*141C>T | XP_005257557.1:n.*141C>T | |
| XM_011524968.1:c.*141C>T | XP_011523270.1:n.*141C>T | |
| XM_005257500.3:c.*141C>T | XP_005257557.1:n.*141C>T | |
| XM_011524968.2:c.*141C>T | XP_011523270.1:n.*141C>T | |
| XM_017024813.1:c.*141C>T | XP_016880302.1:n.*141C>T | |
| NM_018129.4:c.*141C>T MANE Select | NP_060599.1:n.*141C>T |