Linked Data
dbSNP Id:
rs782161619
ExAC:
X:37655360 A / T
gnomAD v2:
X-37655360-A-T
gnomAD v3:
X-37796107-A-T
gnomAD v4:
X-37796107-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.37796107A>T , CM000685.2:g.37796107A>T | GRCh38 |
| NC_000023.10:g.37655360A>T , CM000685.1:g.37655360A>T | GRCh37 |
| NC_000023.9:g.37540300A>T | NCBI36 |
| NG_009065.1:g.21087A>T , LRG_53:g.21087A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696170.1:c.*149A>T | ENSP00000512461.1:n.*149A>T | |
| ENST00000696171.1:c.544A>T | ENSP00000512462.1:p.Ile182Phe | |
| ENST00000696172.1:c.338-2848A>T | ENSP00000512463.1:n.338-2848A>T | |
| ENST00000378588.5:c.640A>T MANE Select | ENSP00000367851.4:p.Ile214Phe | |
| ENST00000378588.4:c.640A>T | ENSP00000367851.4:p.Ile214Phe | |
| ENST00000465127.1:c.171+370107A>T | ENSP00000417050.1:n.171+370107A>T | |
| NM_000397.3:c.640A>T , LRG_53t1:c.640A>T | NP_000388.2:p.Ile214Phe | |
| XM_011543890.1:c.334A>T | XP_011542192.1:p.Ile112Phe | |
| NM_000397.4:c.640A>T MANE Select | NP_000388.2:p.Ile214Phe |