Linked Data
ClinVar Variation Id:
183304
dbSNP Id:
rs730882216
ExAC:
12:69084526 G / A
gnomAD v2:
12-69084526-G-A
gnomAD v4:
12-68690746-G-A
PubMed:
PMID:25558065
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.68690746G>A , CM000674.2:g.68690746G>A | GRCh38 |
| NC_000012.11:g.69084526G>A , CM000674.1:g.69084526G>A | GRCh37 |
| NC_000012.10:g.67370793G>A | NCBI36 |
| NG_046600.2:g.8796G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229179.9:c.303G>A MANE Select | ENSP00000229179.4:p.Met101Ile | |
| ENST00000229179.8:c.303G>A | ENSP00000229179.4:p.Met101Ile | |
| ENST00000378905.6:c.-151G>A | ENSP00000368185.2:n.-151G>A | |
| ENST00000535333.5:n.377G>A | ||
| ENST00000535718.5:c.303G>A | ENSP00000445567.1:p.Met101Ile | |
| ENST00000537598.5:n.369G>A | ||
| ENST00000538549.1:c.3G>A | ENSP00000440116.1:p.Met1Ile | |
| ENST00000539373.1:n.76G>A | ||
| ENST00000539906.5:c.216G>A | ENSP00000441448.1:p.Met72Ile | |
| ENST00000545140.1:n.279G>A | ||
| NM_020401.2:c.303G>A | NP_065134.1:p.Met101Ile | |
| XM_005269037.2:c.303G>A | XP_005269094.1:p.Met101Ile | |
| XM_011538576.1:c.216G>A | XP_011536878.1:p.Met72Ile | |
| NM_001330192.1:c.216G>A | NP_001317121.1:p.Met72Ile | |
| NM_020401.3:c.303G>A | NP_065134.1:p.Met101Ile | |
| XM_005269037.4:c.303G>A | XP_005269094.1:p.Met101Ile | |
| NM_020401.4:c.303G>A MANE Select | NP_065134.1:p.Met101Ile | |
| NM_001330192.2:c.216G>A | NP_001317121.1:p.Met72Ile |