Linked Data
ClinVar Variation Id:
905710
ClinVar RCV Id:
RCV001154391
dbSNP Id:
rs770624113
ExAC:
6:116441520 C / T
gnomAD v2:
6-116441520-C-T
gnomAD v3:
6-116120357-C-T
gnomAD v4:
6-116120357-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.116120357C>T , CM000668.2:g.116120357C>T | GRCh38 |
| NC_000006.11:g.116441520C>T , CM000668.1:g.116441520C>T | GRCh37 |
| NC_000006.10:g.116548213C>T | NCBI36 |
| NG_008032.1:g.10777G>A | |
| NG_021351.1:g.24522C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319550.9:c.529+2412C>T (NT5DC1) MANE Select | ENSP00000326858.3:n.529+2412C>T | |
| ENST00000651968.1:c.1759G>A (COL10A1) MANE Select | ENSP00000498802.1:p.Gly587Arg | |
| ENST00000243222.8:c.1759G>A (COL10A1) | ENSP00000243222.4:p.Gly587Arg | |
| ENST00000319550.8:c.529+2412C>T (NT5DC1) | ENSP00000326858.3:n.529+2412C>T | |
| ENST00000327673.4:c.1759G>A (COL10A1) | ENSP00000327368.4:p.Gly587Arg | |
| ENST00000419791.3:c.529+2412C>T (NT5DC1) | ENSP00000393578.1:n.529+2412C>T | |
| ENST00000460749.1:c.27+2412C>T (NT5DC1) | ||
| NM_000493.3:c.1759G>A (COL10A1) | NP_000484.2:p.Gly587Arg | |
| NM_152729.2:c.529+2412C>T (NT5DC1) | NP_689942.2:n.529+2412C>T | |
| XM_006715333.2:c.1759G>A (COL10A1) | XP_006715396.1:p.Gly587Arg | |
| XM_006715377.2:c.529+2412C>T (NT5DC1) | XP_006715440.1:n.529+2412C>T | |
| XM_006715378.2:c.529+2412C>T (NT5DC1) | XP_006715441.1:n.529+2412C>T | |
| XM_011535432.1:c.1759G>A (COL10A1) | XP_011533734.1:p.Gly587Arg | |
| XM_011535433.1:c.1759G>A (COL10A1) | XP_011533735.1:p.Gly587Arg | |
| XM_006715333.3:c.1759G>A (COL10A1) | XP_006715396.1:p.Gly587Arg | |
| XM_006715378.3:c.529+2412C>T (NT5DC1) | XP_006715441.1:n.529+2412C>T | |
| XM_011535432.3:c.1759G>A (COL10A1) | XP_011533734.1:p.Gly587Arg | |
| XM_011535433.3:c.1759G>A (COL10A1) | XP_011533735.1:p.Gly587Arg | |
| XM_017010248.1:c.1759G>A (COL10A1) | XP_016865737.1:p.Gly587Arg | |
| NM_000493.4:c.1759G>A (COL10A1) MANE Select | NP_000484.2:p.Gly587Arg | |
| NM_152729.3:c.529+2412C>T (NT5DC1) MANE Select | NP_689942.2:n.529+2412C>T |