Linked Data
ClinVar Variation Id:
3053159
ClinVar RCV Id:
RCV004554402
dbSNP Id:
rs139579968
ExAC:
12:6132797 G / A
gnomAD v2:
12-6132797-G-A
gnomAD v3:
12-6023631-G-A
gnomAD v4:
12-6023631-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6023631G>A , CM000674.2:g.6023631G>A | GRCh38 |
| NC_000012.11:g.6132797G>A , CM000674.1:g.6132797G>A | GRCh37 |
| NC_000012.10:g.6003058G>A | NCBI36 |
| NG_009072.1:g.106040C>T | |
| NG_009072.2:g.106040C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.3379C>T MANE Select | ENSP00000261405.5:p.Pro1127Ser | |
| ENST00000261405.9:c.3379C>T | ENSP00000261405.5:p.Pro1127Ser | |
| ENST00000538635.5:n.421-29697C>T | ||
| NM_000552.3:c.3379C>T | NP_000543.2:p.Pro1127Ser | |
| NM_000552.4:c.3379C>T | NP_000543.2:p.Pro1127Ser | |
| NM_000552.5:c.3379C>T MANE Select | NP_000543.3:p.Pro1127Ser |