Linked Data
ClinVar Variation Id:
2396867
ClinVar RCV Id:
RCV002705173
dbSNP Id:
rs1336234399
gnomAD v2:
2-25047331-C-T
gnomAD v3:
2-24824462-C-T
gnomAD v4:
2-24824462-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.24824462C>T , CM000664.2:g.24824462C>T | GRCh38 |
| NC_000002.11:g.25047331C>T , CM000664.1:g.25047331C>T | GRCh37 |
| NC_000002.10:g.24900835C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405392.6:c.2655G>A | ENSP00000384484.2:p.Met885Ile | |
| ENST00000679454.1:c.2652G>A MANE Select | ENSP00000505261.1:p.Met884Ile | |
| ENST00000260600.9:c.2652G>A | ENSP00000260600.5:p.Met884Ile | |
| ENST00000405392.5:c.2655G>A | ENSP00000384484.2:p.Met885Ile | |
| ENST00000606682.5:c.1593G>A | ENSP00000475652.1:p.Met531Ile | |
| NM_004036.3:c.2652G>A | NP_004027.2:p.Met884Ile | |
| XM_005264104.1:c.2655G>A | XP_005264161.1:p.Met885Ile | |
| XM_005264105.1:c.2652G>A | XP_005264162.1:p.Met884Ile | |
| XM_006711925.1:c.2721G>A | XP_006711988.1:p.Met907Ile | |
| XM_011532489.1:c.2778G>A | XP_011530791.1:p.Met926Ile | |
| XM_011532490.1:c.2775G>A | XP_011530792.1:p.Met925Ile | |
| XM_011532491.1:c.2712G>A | XP_011530793.1:p.Met904Ile | |
| XM_011532492.1:c.2778G>A | XP_011530794.1:p.Met926Ile | |
| XM_011532493.1:c.2640G>A | XP_011530795.1:p.Met880Ile | |
| XM_011532494.1:c.2580G>A | XP_011530796.1:p.Met860Ile | |
| XM_011532495.1:c.2112G>A | XP_011530797.1:p.Met704Ile | |
| XM_011532496.1:c.2055G>A | XP_011530798.1:p.Met685Ile | |
| NM_001320613.1:c.2655G>A | NP_001307542.1:p.Met885Ile | |
| NM_004036.4:c.2652G>A | NP_004027.2:p.Met884Ile | |
| XM_011532492.2:c.2778G>A | XP_011530794.1:p.Met926Ile | |
| XM_017003186.1:c.2718G>A | XP_016858675.1:p.Met906Ile | |
| XM_017003187.1:c.2709G>A | XP_016858676.1:p.Met903Ile | |
| XM_017003188.1:c.2775G>A | XP_016858677.1:p.Met925Ile | |
| XM_017003189.1:c.2637G>A | XP_016858678.1:p.Met879Ile | |
| XM_017003190.1:c.2514G>A | XP_016858679.1:p.Met838Ile | |
| XM_017003191.1:c.2142G>A | XP_016858680.1:p.Met714Ile | |
| XM_017003192.1:c.1932G>A | XP_016858681.1:p.Met644Ile | |
| XM_017003193.1:c.1929G>A | XP_016858682.1:p.Met643Ile | |
| NM_001320613.2:c.2655G>A | NP_001307542.1:p.Met885Ile | |
| NM_001377128.1:c.2718G>A | NP_001364057.1:p.Met906Ile | |
| NM_001377129.1:c.2514G>A | NP_001364058.1:p.Met838Ile | |
| NM_001377130.1:c.2247G>A | NP_001364059.1:p.Met749Ile | |
| NM_001377131.1:c.1929G>A | NP_001364060.1:p.Met643Ile | |
| NM_001377132.1:c.2652G>A | NP_001364061.1:p.Met884Ile | |
| NM_004036.5:c.2652G>A MANE Select | NP_004027.2:p.Met884Ile |