Linked Data
ClinVar Variation Id:
3338
ClinVar RCV Id:
RCV000003502
dbSNP Id:
rs587776566
PubMed:
PMID:7554313
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31531448_31531450del , CM000664.2:g.31531448_31531450del | GRCh38 |
| NC_000002.11:g.31756518_31756520del , CM000664.1:g.31756518_31756520del | GRCh37 |
| NC_000002.10:g.31610022_31610024del | NCBI36 |
| NG_008365.1:g.54522_54524del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000622030.2:c.468_470del MANE Select | ENSP00000477587.1:p.Met157del | |
| ENST00000622030.1:c.468_470del | ENSP00000477587.1:p.Met157del | |
| NM_000348.3:c.468_470del | NP_000339.2:p.Met157del | |
| XM_011533069.1:c.246_248del | XP_011531371.1:p.Met83del | |
| XM_011533070.1:c.213_215del | XP_011531372.1:p.Met72del | |
| XM_011533071.1:c.213_215del | XP_011531373.1:p.Met72del | |
| XM_011533072.1:c.213_215del | XP_011531374.1:p.Met72del | |
| XM_011533069.2:c.246_248del | XP_011531371.1:p.Met83del | |
| XM_011533072.2:c.213_215del | XP_011531374.1:p.Met72del | |
| NM_000348.4:c.468_470del MANE Select | NP_000339.2:p.Met157del |