Linked Data
ClinVar Variation Id:
218349
ClinVar RCV Id:
RCV000202578
dbSNP Id:
rs864309523
gnomAD v4:
6-33173522-G-T
PubMed:
PMID:25633957
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33173522G>T , CM000668.2:g.33173522G>T | GRCh38 |
| NC_000006.11:g.33141299G>T , CM000668.1:g.33141299G>T | GRCh37 |
| NC_000006.10:g.33249277G>T | NCBI36 |
| NG_011589.1:g.23947C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361917.6:c.1235C>A | ||
| ENST00000341947.7:c.2662C>A MANE Select | ENSP00000339915.2:p.Pro888Thr | |
| ENST00000341947.6:c.2662C>A | ENSP00000339915.2:p.Pro888Thr | |
| ENST00000361917.5:c.2341C>A | ENSP00000355123.1:p.Pro781Thr | |
| ENST00000374708.8:c.2404C>A | ENSP00000363840.4:p.Pro802Thr | |
| ENST00000477772.1:n.272+3487C>A | ||
| NM_080679.2:c.2341C>A | NP_542410.2:p.Pro781Thr | |
| NM_080680.2:c.2662C>A | NP_542411.2:p.Pro888Thr | |
| NM_080681.2:c.2404C>A | NP_542412.2:p.Pro802Thr | |
| XM_011514298.1:c.1816C>A | XP_011512600.1:p.Pro606Thr | |
| XM_011514299.1:c.1948C>A | XP_011512601.1:p.Pro650Thr | |
| XM_011514300.1:c.1768C>A | XP_011512602.1:p.Pro590Thr | |
| XM_011514301.1:c.1705C>A | XP_011512603.1:p.Pro569Thr | |
| XM_011514302.1:c.1549C>A | XP_011512604.1:p.Pro517Thr | |
| XM_011514299.2:c.1948C>A | XP_011512601.1:p.Pro650Thr | |
| XM_011514300.2:c.1768C>A | XP_011512602.1:p.Pro590Thr | |
| XM_011514302.2:c.1549C>A | XP_011512604.1:p.Pro517Thr | |
| XM_017010250.1:c.2662C>A | XP_016865739.1:p.Pro888Thr | |
| XM_017010251.2:c.1480C>A | XP_016865740.1:p.Pro494Thr | |
| NM_080680.3:c.2662C>A MANE Select | NP_542411.2:p.Pro888Thr | |
| NM_080681.3:c.2404C>A | NP_542412.2:p.Pro802Thr | |
| NM_080679.3:c.2341C>A | NP_542410.2:p.Pro781Thr |