Linked Data
ClinVar Variation Id:
619937
ClinVar RCV Id:
RCV000760125
dbSNP Id:
rs78302129
ExAC:
12:6125820 G / A
gnomAD v2:
12-6125820-G-A
gnomAD v3:
12-6016654-G-A
gnomAD v4:
12-6016654-G-A
ERepo:
CA6402355/MONDO:0019565/090
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6016654G>A , CM000674.2:g.6016654G>A | GRCh38 |
| NC_000012.11:g.6125820G>A , CM000674.1:g.6125820G>A | GRCh37 |
| NC_000012.10:g.5996081G>A | NCBI36 |
| NG_009072.1:g.113017C>T | |
| NG_009072.2:g.113017C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.5173C>T MANE Select | ENSP00000261405.5:p.Pro1725Ser | |
| ENST00000261405.9:c.5173C>T | ENSP00000261405.5:p.Pro1725Ser | |
| ENST00000538635.5:n.421-22720C>T | ||
| NM_000552.3:c.5173C>T | NP_000543.2:p.Pro1725Ser | |
| NM_000552.4:c.5173C>T | NP_000543.2:p.Pro1725Ser | |
| NM_000552.5:c.5173C>T MANE Select | NP_000543.3:p.Pro1725Ser |