Linked Data
ClinVar Variation Id:
6525
ClinVar RCV Id:
RCV000006898
dbSNP Id:
rs104894631
gnomAD v4:
17-47946780-T-C
PubMed:
PMID:15772097
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47946780T>C , CM000679.2:g.47946780T>C | GRCh38 |
| NC_000017.10:g.46024146T>C , CM000679.1:g.46024146T>C | GRCh37 |
| NC_000017.9:g.43379145T>C | NCBI36 |
| NG_008744.1:g.10258T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000225573.5:c.655T>C | ENSP00000225573.5:p.Ter219Gln | |
| ENST00000434554.7:c.730T>C | ENSP00000399960.3:p.Ter244Gln | |
| ENST00000582171.6:c.*449T>C | ENSP00000463994.1:n.*449T>C | |
| ENST00000584061.6:c.715T>C | ENSP00000463972.2:p.Ter239Gln | |
| ENST00000584806.2:n.453T>C | ||
| ENST00000641305.1:n.2283T>C | ||
| ENST00000641323.1:c.*803T>C | ENSP00000492965.1:n.*803T>C | |
| ENST00000641427.1:n.784T>C | ||
| ENST00000641703.1:c.500T>C | ENSP00000493219.1:n.500T>C | |
| ENST00000641709.1:c.*606T>C | ENSP00000493349.1:n.*606T>C | |
| ENST00000641856.1:c.*1292T>C | ENSP00000493224.1:n.*1292T>C | |
| ENST00000642017.2:c.784T>C MANE Select | ENSP00000493302.2:p.Ter262Gln | |
| ENST00000225573.4:c.784T>C | ENSP00000225573.4:p.Ter262Gln | |
| ENST00000434554.6:c.655T>C | ENSP00000399960.2:p.Ter219Gln | |
| ENST00000582171.5:c.*449T>C | ENSP00000463994.1:n.*449T>C | |
| ENST00000584806.1:n.453T>C | ||
| NM_018129.3:c.784T>C | NP_060599.1:p.Ter262Gln | |
| XM_005257500.2:c.544T>C | XP_005257557.1:p.Ter182Gln | |
| XM_011524968.1:c.499T>C | XP_011523270.1:p.Ter167Gln | |
| XM_005257500.3:c.544T>C | XP_005257557.1:p.Ter182Gln | |
| XM_011524968.2:c.499T>C | XP_011523270.1:p.Ter167Gln | |
| XM_017024813.1:c.544T>C | XP_016880302.1:p.Ter182Gln | |
| NM_018129.4:c.784T>C MANE Select | NP_060599.1:p.Ter262Gln |