Linked Data
ClinVar Variation Id:
622
dbSNP Id:
rs62514893
ERepo:
CA229532/MONDO:0009861/006
PubMed:
PMID:1301947
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102917128C>T , CM000674.2:g.102917128C>T | GRCh38 |
| NC_000012.11:g.103310906C>T , CM000674.1:g.103310906C>T | GRCh37 |
| NC_000012.10:g.101835036C>T | NCBI36 |
| NG_008690.1:g.5475G>A | |
| NG_008690.2:g.46283G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.3G>A MANE Select | ENSP00000448059.1:p.Met1Ile | |
| ENST00000307000.7:c.-145G>A | ENSP00000303500.2:n.-145G>A | |
| ENST00000546844.1:c.3G>A | ENSP00000446658.1:p.Met1Ile | |
| ENST00000547319.1:n.314G>A | ||
| ENST00000549111.5:n.99G>A | ||
| ENST00000551337.5:c.3G>A | ENSP00000447620.1:p.Met1Ile | |
| ENST00000551988.5:n.92G>A | ||
| ENST00000553106.5:c.3G>A | ENSP00000448059.1:p.Met1Ile | |
| ENST00000635500.1:n.29-4230G>A | ||
| NM_000277.1:c.3G>A | NP_000268.1:p.Met1Ile | |
| XM_011538422.1:c.3G>A | XP_011536724.1:p.Met1Ile | |
| NM_000277.2:c.3G>A | NP_000268.1:p.Met1Ile | |
| NM_001354304.1:c.3G>A | NP_001341233.1:p.Met1Ile | |
| XM_017019370.2:c.3G>A | XP_016874859.1:p.Met1Ile | |
| NM_000277.3:c.3G>A MANE Select | NP_000268.1:p.Met1Ile | |
| NM_001354304.2:c.3G>A | NP_001341233.1:p.Met1Ile |