Linked Data
ClinVar Variation Id:
196211
ClinVar RCV Id:
RCV000176984
RCV000269903
RCV000327465
RCV000333258
RCV000362143
RCV000384318
RCV000884358
RCV002277384
RCV001704842
dbSNP Id:
rs116302615
ExAC:
5:149360143 T / C
gnomAD v2:
5-149360143-T-C
gnomAD v3:
5-149980580-T-C
gnomAD v4:
5-149980580-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149980580T>C , CM000667.2:g.149980580T>C | GRCh38 |
| NC_000005.9:g.149360143T>C , CM000667.1:g.149360143T>C | GRCh37 |
| NC_000005.8:g.149340336T>C | NCBI36 |
| NG_007147.2:g.21698T>C , LRG_684:g.21698T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286298.5:c.987T>C MANE Select | ENSP00000286298.4:p.Leu329= | |
| ENST00000286298.4:c.987T>C | ENSP00000286298.4:p.Leu329= | |
| ENST00000503336.1:c.372+2229T>C | ENSP00000426053.1:n.372+2229T>C | |
| NM_000112.3:c.987T>C , LRG_684t1:c.987T>C | NP_000103.2:p.Leu329= | |
| XM_017009191.2:c.987T>C | XP_016864680.1:p.Leu329= | |
| NM_000112.4:c.987T>C MANE Select | NP_000103.2:p.Leu329= |