Linked Data
dbSNP Id:
rs2315123
gnomAD v2:
X-153421847-T-C
gnomAD v3:
X-154156372-T-C
gnomAD v4:
X-154156372-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154156372T>C , CM000685.2:g.154156372T>C | GRCh38 |
| NC_000023.10:g.153421847T>C , CM000685.1:g.153421847T>C | GRCh37 |
| NC_000023.9:g.153075041T>C | NCBI36 |
| NG_009105.2:g.17122T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369951.9:c.823T>C MANE Select | ENSP00000358967.4:p.Phe275Leu | |
| ENST00000369951.8:c.823T>C | ENSP00000358967.4:p.Phe275Leu | |
| ENST00000442922.1:c.384+28T>C | ENSP00000402493.1:n.384+28T>C | |
| ENST00000463296.1:n.667T>C | ||
| NM_020061.5:c.823T>C | NP_064445.2:p.Phe275Leu | |
| NM_020061.6:c.823T>C MANE Select | NP_064445.2:p.Phe275Leu |