Linked Data
ClinVar Variation Id:
518459
ClinVar RCV Id:
RCV000617799
dbSNP Id:
rs1426116895
gnomAD v2:
19-12996623-G-A
gnomAD v4:
19-12885809-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12885809G>A , CM000681.2:g.12885809G>A | GRCh38 |
| NC_000019.9:g.12996623G>A , CM000681.1:g.12996623G>A | GRCh37 |
| NC_000019.8:g.12857623G>A | NCBI36 |
| NG_013087.1:g.6395C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264834.6:c.421C>T MANE Select | ENSP00000264834.3:p.Arg141Ter | |
| ENST00000264834.4:c.421C>T | ENSP00000264834.3:p.Arg141Ter | |
| NM_006563.3:c.421C>T | NP_006554.1:p.Arg141Ter | |
| XM_011527642.1:c.307C>T | XP_011525944.1:p.Arg103Ter | |
| NM_006563.4:c.421C>T | NP_006554.1:p.Arg141Ter | |
| XM_011527642.2:c.307C>T | XP_011525944.1:p.Arg103Ter | |
| NM_006563.5:c.421C>T MANE Select | NP_006554.1:p.Arg141Ter |