Linked Data
ClinVar Variation Id:
24928
ClinVar RCV Id:
RCV000121978
RCV000148770
RCV000163375
RCV000224141
RCV001104573
RCV000663272
RCV001082257
RCV001104575
RCV001533539
RCV001104572
RCV001104574
dbSNP Id:
rs148935214
ExAC:
10:43609994 C / T
gnomAD v2:
10-43609994-C-T
gnomAD v3:
10-43114546-C-T
gnomAD v4:
10-43114546-C-T
COSMIC:
COSM4170226
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43114546C>T , CM000672.2:g.43114546C>T | GRCh38 |
| NC_000010.10:g.43609994C>T , CM000672.1:g.43609994C>T | GRCh37 |
| NC_000010.9:g.42930000C>T | NCBI36 |
| NG_007489.1:g.42478C>T , LRG_518:g.42478C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.1550C>T | ENSP00000480088.2:p.Ser517Leu | |
| ENST00000683007.1:n.1520C>T | ||
| ENST00000683872.1:n.1511C>T | ||
| ENST00000340058.6:c.1946C>T | ENSP00000344798.4:p.Ser649Leu | |
| ENST00000355710.8:c.1946C>T MANE Select | ENSP00000347942.3:p.Ser649Leu | |
| ENST00000671844.1:c.*540C>T | ENSP00000500541.1:n.*540C>T | |
| ENST00000672389.1:c.*540C>T | ENSP00000500252.1:n.*540C>T | |
| ENST00000340058.5:c.1946C>T | ENSP00000344798.4:p.Ser649Leu | |
| ENST00000355710.7:c.1946C>T | ENSP00000347942.3:p.Ser649Leu | |
| ENST00000498820.5:c.497C>T | ENSP00000419080.1:p.Ser166Leu | |
| ENST00000615310.4:c.1289+3314C>T | ENSP00000480088.1:n.1289+3314C>T | |
| NM_020630.4:c.1946C>T , LRG_518t2:c.1946C>T | NP_065681.1:p.Ser649Leu | |
| NM_020975.4:c.1946C>T , LRG_518t1:c.1946C>T | NP_066124.1:p.Ser649Leu | |
| XM_011540027.1:c.1946C>T | XP_011538329.1:p.Ser649Leu | |
| NM_001355216.1:c.1184C>T | NP_001342145.1:p.Ser395Leu | |
| NM_020630.5:c.1946C>T | NP_065681.1:p.Ser649Leu | |
| NM_020975.5:c.1946C>T | NP_066124.1:p.Ser649Leu | |
| NM_020975.6:c.1946C>T MANE Select | NP_066124.1:p.Ser649Leu | |
| NM_020630.6:c.1946C>T | NP_065681.1:p.Ser649Leu |