Linked Data
dbSNP Id:
rs759475454
ExAC:
X:47433935 T / G
gnomAD v2:
X-47433935-T-G
gnomAD v4:
X-47574536-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.47574536T>G , CM000685.2:g.47574536T>G | GRCh38 |
| NC_000023.10:g.47433935T>G , CM000685.1:g.47433935T>G | GRCh37 |
| NC_000023.9:g.47318879T>G | NCBI36 |
| NG_008437.1:g.50322A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295987.13:c.1448A>C MANE Select | ENSP00000295987.7:p.Gln483Pro | |
| ENST00000340666.5:c.1448A>C | ENSP00000343206.4:p.Gln483Pro | |
| ENST00000640721.1:c.70+152A>C | ENSP00000492857.1:n.70+152A>C | |
| ENST00000295987.11:c.1448A>C | ENSP00000295987.7:p.Gln483Pro | |
| ENST00000340666.4:c.1448A>C | ENSP00000343206.4:p.Gln483Pro | |
| NM_006950.3:c.1448A>C MANE Select | NP_008881.2:p.Gln483Pro | |
| NM_133499.2:c.1448A>C | NP_598006.1:p.Gln483Pro |