Linked Data
ClinVar Variation Id:
2389286
ClinVar RCV Id:
RCV002714364
dbSNP Id:
rs1165529137
gnomAD v2:
12-57501020-C-T
gnomAD v3:
12-57107237-C-T
gnomAD v4:
12-57107237-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57107237C>T , CM000674.2:g.57107237C>T | GRCh38 |
| NC_000012.11:g.57501020C>T , CM000674.1:g.57501020C>T | GRCh37 |
| NC_000012.10:g.55787287C>T | NCBI36 |
| NG_021272.1:g.9177G>A | |
| NG_021272.2:g.29903G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300134.8:c.333G>A MANE Select | ENSP00000300134.3:p.Met111Ile | |
| ENST00000553533.2:c.333G>A | ENSP00000451546.2:p.Met111Ile | |
| ENST00000554764.6:c.*77G>A | ENSP00000451909.1:n.*77G>A | |
| ENST00000640254.2:c.333G>A | ENSP00000491116.2:p.Met111Ile | |
| ENST00000651176.1:c.333G>A | ENSP00000498693.1:p.Met111Ile | |
| ENST00000300134.7:c.333G>A | ENSP00000300134.3:p.Met111Ile | |
| ENST00000454075.7:c.333G>A | ENSP00000401486.3:p.Met111Ile | |
| ENST00000537215.6:c.3G>A | ENSP00000444530.2:p.Met1Ile | |
| ENST00000538913.6:c.3G>A | ENSP00000445409.2:p.Met1Ile | |
| ENST00000543873.6:c.333G>A | ENSP00000438451.2:p.Met111Ile | |
| ENST00000553397.5:c.333G>A | ENSP00000452203.1:p.Met111Ile | |
| ENST00000553499.5:c.333G>A | ENSP00000451074.1:p.Met111Ile | |
| ENST00000554764.5:c.*77G>A | ENSP00000451909.1:n.*77G>A | |
| ENST00000555104.5:c.*77G>A | ENSP00000450510.1:n.*77G>A | |
| ENST00000555641.1:n.338G>A | ||
| ENST00000555849.5:c.333G>A | ENSP00000452394.1:p.Met111Ile | |
| ENST00000556155.5:c.333G>A | ENSP00000451742.1:p.Met111Ile | |
| ENST00000556259.5:c.279G>A | ENSP00000452373.1:p.Met93Ile | |
| NM_001178078.1:c.333G>A | NP_001171549.1:p.Met111Ile | |
| NM_001178079.1:c.333G>A | NP_001171550.1:p.Met111Ile | |
| NM_001178080.1:c.3G>A | NP_001171551.1:p.Met1Ile | |
| NM_001178081.1:c.3G>A | NP_001171552.1:p.Met1Ile | |
| NM_003153.4:c.333G>A | NP_003144.3:p.Met111Ile | |
| NR_033659.1:n.500G>A | ||
| XM_006719574.1:c.333G>A | XP_006719637.1:p.Met111Ile | |
| XM_006719575.1:c.333G>A | XP_006719638.1:p.Met111Ile | |
| XM_011538703.1:c.333G>A | XP_011537005.1:p.Met111Ile | |
| XM_011538704.1:c.333G>A | XP_011537006.1:p.Met111Ile | |
| XM_011538705.1:c.333G>A | XP_011537007.1:p.Met111Ile | |
| XM_011538706.1:c.333G>A | XP_011537008.1:p.Met111Ile | |
| XM_011538707.1:c.333G>A | XP_011537009.1:p.Met111Ile | |
| XM_011538708.1:c.3G>A | XP_011537010.1:p.Met1Ile | |
| XM_011538709.1:c.3G>A | XP_011537011.1:p.Met1Ile | |
| XM_011538703.3:c.333G>A | XP_011537005.1:p.Met111Ile | |
| XM_011538704.3:c.333G>A | XP_011537006.1:p.Met111Ile | |
| XM_011538705.3:c.333G>A | XP_011537007.1:p.Met111Ile | |
| XM_011538707.3:c.333G>A | XP_011537009.1:p.Met111Ile | |
| XM_011538708.3:c.3G>A | XP_011537010.1:p.Met1Ile | |
| NM_003153.5:c.333G>A MANE Select | NP_003144.3:p.Met111Ile | |
| NM_001178078.2:c.333G>A | NP_001171549.1:p.Met111Ile | |
| NM_001178079.2:c.333G>A | NP_001171550.1:p.Met111Ile | |
| NM_001178080.2:c.3G>A | NP_001171551.1:p.Met1Ile | |
| NM_001178081.2:c.3G>A | NP_001171552.1:p.Met1Ile | |
| NR_033659.2:n.449G>A |