Linked Data
dbSNP Id:
rs746927463
ExAC:
X:138644259 T / C
gnomAD v2:
X-138644259-T-C
gnomAD v4:
X-139562100-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.139562100T>C , CM000685.2:g.139562100T>C | GRCh38 |
| NC_000023.10:g.138644259T>C , CM000685.1:g.138644259T>C | GRCh37 |
| NC_000023.9:g.138471925T>C | NCBI36 |
| NG_007994.1:g.36365T>C , LRG_556:g.36365T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218099.7:c.*29T>C MANE Select | ENSP00000218099.2:n.*29T>C | |
| ENST00000643157.1:n.1723+359T>C | ||
| ENST00000218099.6:c.*29T>C | ENSP00000218099.2:n.*29T>C | |
| NM_000133.3:c.*29T>C , LRG_556t1:c.*29T>C | NP_000124.1:n.*29T>C | |
| NM_001313913.1:c.*29T>C | NP_001300842.1:n.*29T>C | |
| XM_005262397.3:c.*29T>C | XP_005262454.1:n.*29T>C | |
| XM_005262397.4:c.*29T>C | XP_005262454.1:n.*29T>C | |
| NM_000133.4:c.*29T>C MANE Select | NP_000124.1:n.*29T>C | |
| NM_001313913.2:c.*29T>C | NP_001300842.1:n.*29T>C |