Linked Data
ClinVar Variation Id:
3080029
ClinVar RCV Id:
RCV004370873
dbSNP Id:
rs1354312123
gnomAD v2:
17-29253848-A-T
gnomAD v4:
17-30926830-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.30926830A>T , CM000679.2:g.30926830A>T | GRCh38 |
| NC_000017.10:g.29253848A>T , CM000679.1:g.29253848A>T | GRCh37 |
| NC_000017.9:g.26277974A>T | NCBI36 |
| NG_051975.1:g.10095A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330889.8:c.229A>T MANE Select | ENSP00000329468.3:p.Met77Leu | |
| ENST00000330889.7:c.229A>T | ENSP00000329468.3:p.Met77Leu | |
| ENST00000580525.5:c.247A>T | ENSP00000464121.1:p.Met83Leu | |
| ENST00000580526.1:c.225+3760A>T | ENSP00000462832.1:n.225+3760A>T | |
| ENST00000581285.5:c.229A>T | ENSP00000464155.1:p.Met77Leu | |
| ENST00000581548.5:c.-50+4722A>T | ENSP00000467079.1:n.-50+4722A>T | |
| ENST00000585130.5:c.229A>T | ENSP00000464120.1:p.Met77Leu | |
| NM_018404.2:c.229A>T | NP_060874.1:p.Met77Leu | |
| XM_005258008.2:c.247A>T | XP_005258065.1:p.Met83Leu | |
| XM_005258011.2:c.247A>T | XP_005258068.1:p.Met83Leu | |
| XM_006721973.2:c.247A>T | XP_006722036.1:p.Met83Leu | |
| XM_011524993.1:c.247A>T | XP_011523295.1:p.Met83Leu | |
| XM_011524994.1:c.229A>T | XP_011523296.1:p.Met77Leu | |
| NM_001346712.1:c.247A>T | NP_001333641.1:p.Met83Leu | |
| NM_001346714.1:c.229A>T | NP_001333643.1:p.Met77Leu | |
| NM_001346716.1:c.229A>T | NP_001333645.1:p.Met77Leu | |
| NR_144488.1:n.508A>T | ||
| XM_024450831.1:c.229A>T | XP_024306599.1:p.Met77Leu | |
| XM_024450832.1:c.247A>T | XP_024306600.1:p.Met83Leu | |
| XM_024450833.1:c.247A>T | XP_024306601.1:p.Met83Leu | |
| XM_024450834.1:c.247A>T | XP_024306602.1:p.Met83Leu | |
| XM_024450835.1:c.-50+3760A>T | XP_024306603.1:n.-50+3760A>T | |
| NM_018404.3:c.229A>T MANE Select | NP_060874.1:p.Met77Leu | |
| NM_001346712.2:c.247A>T | NP_001333641.1:p.Met83Leu | |
| NM_001346714.2:c.229A>T | NP_001333643.1:p.Met77Leu | |
| NM_001346716.2:c.229A>T | NP_001333645.1:p.Met77Leu | |
| NR_144488.2:n.299A>T |