Linked Data
ClinVar Variation Id:
15138
ClinVar RCV Id:
RCV000016301
RCV000709890
RCV000396079
RCV000587680
RCV001107023
RCV001535933
RCV000855646
RCV001004567
RCV001107022
dbSNP Id:
rs33947415
ExAC:
11:5247914 C / T
gnomAD v2:
11-5247914-C-T
gnomAD v3:
11-5226684-C-T
gnomAD v4:
11-5226684-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226684C>T , CM000673.2:g.5226684C>T | GRCh38 |
| NC_000011.9:g.5247914C>T , CM000673.1:g.5247914C>T | GRCh37 |
| NC_000011.8:g.5204490C>T | NCBI36 |
| NG_000007.3:g.70932G>A | |
| NG_059281.1:g.5388G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.208G>A | ENSP00000494175.1:p.Gly70Ser | |
| ENST00000335295.4:c.208G>A MANE Select | ENSP00000333994.3:p.Gly70Ser | |
| ENST00000380315.2:c.208G>A | ENSP00000369671.2:p.Gly70Ser | |
| ENST00000475226.1:n.140G>A | ||
| ENST00000485743.1:n.259G>A | ||
| ENST00000633227.1:c.*24G>A | ENSP00000488004.1:n.*24G>A | |
| NM_000518.4:c.208G>A | NP_000509.1:p.Gly70Ser | |
| NM_000518.5:c.208G>A MANE Select | NP_000509.1:p.Gly70Ser |