Linked Data
dbSNP Id:
rs749966000
ExAC:
11:121429301 G / T
gnomAD v2:
11-121429301-G-T
gnomAD v4:
11-121558592-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121558592G>T , CM000673.2:g.121558592G>T | GRCh38 |
| NC_000011.9:g.121429301G>T , CM000673.1:g.121429301G>T | GRCh37 |
| NC_000011.8:g.120934511G>T | NCBI36 |
| NG_023313.1:g.111341G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260197.12:c.2665G>T MANE Select | ENSP00000260197.6:p.Val889Leu | |
| ENST00000260197.11:c.2665G>T | ENSP00000260197.6:p.Val889Leu | |
| ENST00000524873.1:n.393G>T | ||
| ENST00000529445.1:n.371G>T | ||
| NM_003105.5:c.2665G>T | NP_003096.1:p.Val889Leu | |
| XM_011542963.1:c.2665G>T | XP_011541265.1:p.Val889Leu | |
| XM_011542964.1:c.2665G>T | XP_011541266.1:p.Val889Leu | |
| XM_011542965.1:c.1126G>T | XP_011541267.1:p.Val376Leu | |
| XM_011542966.1:c.25G>T | XP_011541268.1:p.Val9Leu | |
| XM_011542963.3:c.2665G>T | XP_011541265.1:p.Val889Leu | |
| XM_011542965.3:c.1126G>T | XP_011541267.1:p.Val376Leu | |
| XM_017018169.2:c.2353G>T | XP_016873658.1:p.Val785Leu | |
| XM_017018170.2:c.2140G>T | XP_016873659.1:p.Val714Leu | |
| XM_017018171.1:c.2665G>T | XP_016873660.1:p.Val889Leu | |
| XM_017018172.2:c.25G>T | XP_016873661.1:p.Val9Leu | |
| NM_003105.6:c.2665G>T MANE Select | NP_003096.2:p.Val889Leu |