Linked Data
ClinVar Variation Id:
529123
ClinVar RCV Id:
RCV000634423
dbSNP Id:
rs773045619
ExAC:
8:61777824 C / T
gnomAD v2:
8-61777824-C-T
gnomAD v4:
8-60865265-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.60865265C>T , CM000670.2:g.60865265C>T | GRCh38 |
| NC_000008.10:g.61777824C>T , CM000670.1:g.61777824C>T | GRCh37 |
| NC_000008.9:g.61940378C>T | NCBI36 |
| NG_007009.1:g.191486C>T , LRG_176:g.191486C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695850.1:n.1502C>T | ||
| ENST00000695852.1:n.433C>T | ||
| ENST00000695853.1:c.*1385C>T | ENSP00000512218.1:n.*1385C>T | |
| ENST00000423902.7:c.8326C>T MANE Select | ENSP00000392028.1:p.Pro2776Ser | |
| ENST00000423902.6:c.8326C>T | ENSP00000392028.1:p.Pro2776Ser | |
| ENST00000524602.5:c.2179C>T | ENSP00000437061.1:p.Pro727Ser | |
| ENST00000528280.1:n.372C>T | ||
| NM_001316690.1:c.2179C>T | NP_001303619.1:p.Pro727Ser | |
| NM_017780.3:c.8326C>T | NP_060250.2:p.Pro2776Ser | |
| XM_011517553.1:c.8416C>T | XP_011515855.1:p.Pro2806Ser | |
| XM_011517554.1:c.8416C>T | XP_011515856.1:p.Pro2806Ser | |
| XM_011517555.1:c.8413C>T | XP_011515857.1:p.Pro2805Ser | |
| XM_011517556.1:c.8194C>T | XP_011515858.1:p.Pro2732Ser | |
| XM_011517557.1:c.6403C>T | XP_011515859.1:p.Pro2135Ser | |
| XM_011517558.1:c.5953C>T | XP_011515860.1:p.Pro1985Ser | |
| XM_011517559.1:c.5161C>T | XP_011515861.1:p.Pro1721Ser | |
| XM_011517553.2:c.8416C>T | XP_011515855.1:p.Pro2806Ser | |
| XM_011517554.3:c.8416C>T | XP_011515856.1:p.Pro2806Ser | |
| XM_011517555.2:c.8413C>T | XP_011515857.1:p.Pro2805Ser | |
| XM_017013612.1:c.8416C>T | XP_016869101.1:p.Pro2806Ser | |
| XM_017013613.1:c.8323C>T | XP_016869102.1:p.Pro2775Ser | |
| NM_017780.4:c.8326C>T MANE Select | NP_060250.2:p.Pro2776Ser |