Linked Data
ClinVar Variation Id:
226428
ClinVar RCV Id:
RCV000211708
dbSNP Id:
rs876657414
gnomAD v3:
2-98217874-A-C
gnomAD v4:
2-98217874-A-C
PubMed:
PMID:26157035
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.98217874A>C , CM000664.2:g.98217874A>C | GRCh38 |
| NC_000002.11:g.98834337A>C , CM000664.1:g.98834337A>C | GRCh37 |
| NC_000002.10:g.98200769A>C | NCBI36 |
| NG_054753.1:g.135743A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000477737.6:c.1865A>C MANE Select | ENSP00000417955.1:p.Lys622Thr | |
| ENST00000409460.5:n.2071A>C | ||
| ENST00000416277.5:c.*512A>C | ENSP00000411168.1:n.*512A>C | |
| ENST00000432242.5:c.*1618A>C | ENSP00000396734.1:n.*1618A>C | |
| ENST00000433678.5:c.*211A>C | ENSP00000388158.1:n.*211A>C | |
| ENST00000448638.5:c.*512A>C | ENSP00000396866.1:n.*512A>C | |
| ENST00000473149.5:c.96A>C | ||
| ENST00000477737.5:c.1865A>C | ENSP00000417955.1:p.Lys622Thr | |
| ENST00000489630.5:c.96A>C | ||
| ENST00000489968.5:n.472A>C | ||
| ENST00000495571.5:c.527A>C | ||
| NM_144992.4:c.1865A>C | NP_659429.4:p.Lys622Thr | |
| XM_005263897.1:c.1865A>C | XP_005263954.1:p.Lys622Thr | |
| XM_006712357.1:c.1415A>C | XP_006712420.1:p.Lys472Thr | |
| XM_006712359.2:c.422A>C | XP_006712422.1:p.Lys141Thr | |
| XM_006712360.2:c.41A>C | XP_006712423.1:p.Lys14Thr | |
| XM_011510770.1:c.1865A>C | XP_011509072.1:p.Lys622Thr | |
| XM_011510771.1:c.1739A>C | XP_011509073.1:p.Lys580Thr | |
| XM_011510772.1:c.1865A>C | XP_011509074.1:p.Lys622Thr | |
| XM_011510773.1:c.1865A>C | XP_011509075.1:p.Lys622Thr | |
| XM_011510774.1:c.1865A>C | XP_011509076.1:p.Lys622Thr | |
| XR_244881.1:n.527A>C | ||
| XR_922884.1:n.2094A>C | ||
| XR_922885.1:n.2094A>C | ||
| XR_922886.1:n.2094A>C | ||
| XR_922887.1:n.2315A>C | ||
| NM_001345864.1:c.836A>C | NP_001332793.1:p.Lys279Thr | |
| NR_144296.1:n.2188A>C | ||
| NR_144297.1:n.2048A>C | ||
| NR_144298.1:n.1688A>C | ||
| XM_005263897.2:c.1865A>C | XP_005263954.1:p.Lys622Thr | |
| XM_006712357.2:c.1415A>C | XP_006712420.1:p.Lys472Thr | |
| XM_006712359.3:c.422A>C | XP_006712422.1:p.Lys141Thr | |
| XM_011510771.2:c.1739A>C | XP_011509073.1:p.Lys580Thr | |
| XM_017003561.1:c.836A>C | XP_016859050.1:p.Lys279Thr | |
| XM_017003562.1:c.836A>C | XP_016859051.1:p.Lys279Thr | |
| XM_017003564.1:c.1865A>C | XP_016859053.1:p.Lys622Thr | |
| XM_024452744.1:c.836A>C | XP_024308512.1:p.Lys279Thr | |
| XR_922885.3:n.2094A>C | ||
| NM_001345864.2:c.836A>C | NP_001332793.1:p.Lys279Thr | |
| NM_144992.5:c.1865A>C MANE Select | NP_659429.4:p.Lys622Thr | |
| NR_144296.2:n.2153A>C | ||
| NR_144297.2:n.2013A>C | ||
| NR_144298.2:n.1653A>C |