Linked Data
ClinVar Variation Id:
6873
ClinVar RCV Id:
RCV001328091
dbSNP Id:
rs267606919
ExAC:
19:36321958 G / A
gnomAD v2:
19-36321958-G-A
gnomAD v3:
19-35831056-G-A
gnomAD v4:
19-35831056-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35831056G>A , CM000681.2:g.35831056G>A | GRCh38 |
| NC_000019.9:g.36321958G>A , CM000681.1:g.36321958G>A | GRCh37 |
| NC_000019.8:g.41013798G>A | NCBI36 |
| NG_013356.2:g.43232C>T , LRG_693:g.43232C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378910.10:c.3478C>T MANE Select | ENSP00000368190.4:p.Arg1160Ter | |
| ENST00000353632.6:c.3358C>T | ENSP00000343634.5:p.Arg1120Ter | |
| ENST00000378910.9:c.3478C>T | ENSP00000368190.4:p.Arg1160Ter | |
| NM_004646.3:c.3478C>T , LRG_693t1:c.3478C>T | NP_004637.1:p.Arg1160Ter | |
| NM_004646.4:c.3478C>T MANE Select | NP_004637.1:p.Arg1160Ter |