Linked Data
ClinVar Variation Id:
652922
ClinVar RCV Id:
RCV000808593
dbSNP Id:
rs377497122
ExAC:
8:61765520 A / C
gnomAD v2:
8-61765520-A-C
gnomAD v3:
8-60852961-A-C
gnomAD v4:
8-60852961-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.60852961A>C , CM000670.2:g.60852961A>C | GRCh38 |
| NC_000008.10:g.61765520A>C , CM000670.1:g.61765520A>C | GRCh37 |
| NC_000008.9:g.61928074A>C | NCBI36 |
| NG_007009.1:g.179182A>C , LRG_176:g.179182A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695853.1:c.6236A>C | ENSP00000512218.1:p.Lys2079Thr | |
| ENST00000423902.7:c.6236A>C MANE Select | ENSP00000392028.1:p.Lys2079Thr | |
| ENST00000423902.6:c.6236A>C | ENSP00000392028.1:p.Lys2079Thr | |
| ENST00000524602.5:c.1717-9268A>C | ENSP00000437061.1:n.1717-9268A>C | |
| NM_001316690.1:c.1717-9268A>C | NP_001303619.1:n.1717-9268A>C | |
| NM_017780.3:c.6236A>C | NP_060250.2:p.Lys2079Thr | |
| XM_011517553.1:c.6326A>C | XP_011515855.1:p.Lys2109Thr | |
| XM_011517554.1:c.6326A>C | XP_011515856.1:p.Lys2109Thr | |
| XM_011517555.1:c.6326A>C | XP_011515857.1:p.Lys2109Thr | |
| XM_011517556.1:c.6326A>C | XP_011515858.1:p.Lys2109Thr | |
| XM_011517557.1:c.4313A>C | XP_011515859.1:p.Lys1438Thr | |
| XM_011517558.1:c.3863A>C | XP_011515860.1:p.Lys1288Thr | |
| XM_011517559.1:c.3071A>C | XP_011515861.1:p.Lys1024Thr | |
| XM_011517553.2:c.6326A>C | XP_011515855.1:p.Lys2109Thr | |
| XM_011517554.3:c.6326A>C | XP_011515856.1:p.Lys2109Thr | |
| XM_011517555.2:c.6326A>C | XP_011515857.1:p.Lys2109Thr | |
| XM_017013612.1:c.6326A>C | XP_016869101.1:p.Lys2109Thr | |
| XM_017013613.1:c.6236A>C | XP_016869102.1:p.Lys2079Thr | |
| NM_017780.4:c.6236A>C MANE Select | NP_060250.2:p.Lys2079Thr |