Linked Data
ClinVar Variation Id:
3178992
ClinVar RCV Id:
RCV004475364
dbSNP Id:
rs780304897
ExAC:
6:49427115 G / A
gnomAD v2:
6-49427115-G-A
gnomAD v4:
6-49459402-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49459402G>A , CM000668.2:g.49459402G>A | GRCh38 |
| NC_000006.11:g.49427115G>A , CM000668.1:g.49427115G>A | GRCh37 |
| NC_000006.10:g.49535074G>A | NCBI36 |
| NG_007100.1:g.8738C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274813.4:c.65C>T MANE Select | ENSP00000274813.3:p.Ser22Leu | |
| ENST00000274813.3:c.65C>T | ENSP00000274813.3:p.Ser22Leu | |
| NM_000255.3:c.65C>T | NP_000246.2:p.Ser22Leu | |
| XM_005249143.2:c.65C>T | XP_005249200.1:p.Ser22Leu | |
| XM_005249143.3:c.65C>T | XP_005249200.1:p.Ser22Leu | |
| NM_000255.4:c.65C>T MANE Select | NP_000246.2:p.Ser22Leu |