Linked Data
ClinVar Variation Id:
16486
ClinVar RCV Id:
RCV000017950
dbSNP Id:
rs104894685
gnomAD v2:
19-49469574-G-A
gnomAD v3:
19-48966317-G-A
gnomAD v4:
19-48966317-G-A
PubMed:
PMID:16116125
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48966317G>A , CM000681.2:g.48966317G>A | GRCh38 |
| NC_000019.9:g.49469574G>A , CM000681.1:g.49469574G>A | GRCh37 |
| NC_000019.8:g.54161386G>A | NCBI36 |
| NG_008152.1:g.6009G>A | |
| NG_012923.1:g.32037C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000331825.11:c.286G>A MANE Select | ENSP00000366525.2:p.Ala96Thr | |
| ENST00000331825.10:c.286G>A | ENSP00000366525.2:p.Ala96Thr | |
| ENST00000622577.2:c.286G>A | ENSP00000484043.1:p.Ala96Thr | |
| NM_000146.3:c.286G>A | NP_000137.2:p.Ala96Thr | |
| XM_024451447.1:c.796G>A | XP_024307215.1:p.Ala266Thr | |
| NM_000146.4:c.286G>A MANE Select | NP_000137.2:p.Ala96Thr |