Linked Data
dbSNP Id:
rs782492839
ExAC:
X:37664259 G / T
gnomAD v2:
X-37664259-G-T
gnomAD v3:
X-37805006-G-T
gnomAD v4:
X-37805006-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.37805006G>T , CM000685.2:g.37805006G>T | GRCh38 |
| NC_000023.10:g.37664259G>T , CM000685.1:g.37664259G>T | GRCh37 |
| NC_000023.9:g.37549203G>T | NCBI36 |
| NG_009065.1:g.29990G>T , LRG_53:g.29990G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696170.1:c.*661G>T | ENSP00000512461.1:n.*661G>T | |
| ENST00000696171.1:c.1056G>T | ENSP00000512462.1:p.Lys352Asn | |
| ENST00000378588.5:c.1152G>T MANE Select | ENSP00000367851.4:p.Lys384Asn | |
| ENST00000378588.4:c.1152G>T | ENSP00000367851.4:p.Lys384Asn | |
| ENST00000465127.1:c.171+379006G>T | ENSP00000417050.1:n.171+379006G>T | |
| NM_000397.3:c.1152G>T , LRG_53t1:c.1152G>T | NP_000388.2:p.Lys384Asn | |
| XM_011543890.1:c.846G>T | XP_011542192.1:p.Lys282Asn | |
| NM_000397.4:c.1152G>T MANE Select | NP_000388.2:p.Lys384Asn |