Linked Data
dbSNP Id:
rs775243259
ExAC:
X:70330817 C / T
gnomAD v2:
X-70330817-C-T
gnomAD v3:
X-71110967-C-T
gnomAD v4:
X-71110967-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.71110967C>T , CM000685.2:g.71110967C>T | GRCh38 |
| NC_000023.10:g.70330817C>T , CM000685.1:g.70330817C>T | GRCh37 |
| NC_000023.9:g.70247542C>T | NCBI36 |
| NG_009088.1:g.5587G>A , LRG_150:g.5587G>A | |
| NG_021141.1:g.822G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000482750.6:c.199G>A | ENSP00000421262.2:p.Val67Ile | |
| ENST00000696903.1:n.250G>A | ||
| ENST00000374202.7:c.199G>A MANE Select | ENSP00000363318.3:p.Val67Ile | |
| ENST00000642473.1:n.563G>A | ||
| ENST00000644022.1:n.605G>A | ||
| ENST00000644708.1:n.605G>A | ||
| ENST00000644911.1:n.605G>A | ||
| ENST00000645266.1:c.199G>A | ENSP00000493734.1:p.Val67Ile | |
| ENST00000645518.1:c.199G>A | ENSP00000493986.1:p.Val67Ile | |
| ENST00000646106.1:c.199G>A | ENSP00000496437.1:p.Val67Ile | |
| ENST00000646505.1:c.199G>A | ENSP00000496673.1:p.Val67Ile | |
| ENST00000647492.1:c.199G>A | ENSP00000495340.1:p.Val67Ile | |
| ENST00000276110.6:n.584G>A | ||
| ENST00000374188.7:c.-518G>A | ENSP00000363303.3:n.-518G>A | |
| ENST00000374202.6:c.199G>A | ENSP00000363318.2:p.Val67Ile | |
| ENST00000456850.6:c.24+458G>A | ENSP00000388967.2:n.24+458G>A | |
| ENST00000464642.5:c.67G>A | ENSP00000425233.1:p.Val23Ile | |
| ENST00000473378.1:c.136G>A | ENSP00000423601.1:p.Val46Ile | |
| ENST00000487883.1:c.163G>A | ENSP00000423966.1:p.Val55Ile | |
| ENST00000512747.3:n.266G>A | ||
| NM_000206.2:c.199G>A , LRG_150t1:c.199G>A | NP_000197.1:p.Val67Ile | |
| NM_000206.3:c.199G>A MANE Select | NP_000197.1:p.Val67Ile |