Linked Data
dbSNP Id:
rs1332184270
gnomAD v2:
X-135741161-T-C
gnomAD v3:
X-136659002-T-C
gnomAD v4:
X-136659002-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.136659002T>C , CM000685.2:g.136659002T>C | GRCh38 |
| NC_000023.10:g.135741161T>C , CM000685.1:g.135741161T>C | GRCh37 |
| NC_000023.9:g.135568827T>C | NCBI36 |
| NG_007280.1:g.15826T>C , LRG_141:g.15826T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000695724.1:c.*28-37T>C | ENSP00000512122.1:n.*28-37T>C | |
| ENST00000695725.1:c.157-37T>C | ENSP00000512123.1:n.157-37T>C | |
| ENST00000695726.1:n.2378-37T>C | ||
| ENST00000695729.1:n.3213-37T>C | ||
| ENST00000370629.7:c.410-37T>C MANE Select | ENSP00000359663.2:n.410-37T>C | |
| ENST00000370628.2:c.347-37T>C | ENSP00000359662.2:n.347-37T>C | |
| ENST00000370629.6:c.410-37T>C | ENSP00000359663.2:n.410-37T>C | |
| NM_000074.2:c.410-37T>C , LRG_141t1:c.410-37T>C | NP_000065.1:n.410-37T>C | |
| NM_000074.3:c.410-37T>C MANE Select | NP_000065.1:n.410-37T>C |