Linked Data
ClinVar Variation Id:
2688060
ClinVar RCV Id:
RCV003488969
dbSNP Id:
rs1059702
ExAC:
X:153284192 A / G
gnomAD v2:
X-153284192-A-G
gnomAD v3:
X-154018741-A-G
gnomAD v4:
X-154018741-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154018741A>G , CM000685.2:g.154018741A>G | GRCh38 |
| NC_000023.10:g.153284192A>G , CM000685.1:g.153284192A>G | GRCh37 |
| NC_000023.9:g.152937386A>G | NCBI36 |
| NG_008387.1:g.6151T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000699980.1:n.131T>C | ||
| ENST00000369980.8:c.587T>C MANE Select | ENSP00000358997.3:p.Phe196Ser | |
| ENST00000369973.7:c.665T>C | ENSP00000358990.3:p.Phe222Ser | |
| ENST00000369974.6:c.587T>C | ENSP00000358991.2:p.Phe196Ser | |
| ENST00000369980.7:c.587T>C | ENSP00000358997.3:p.Phe196Ser | |
| ENST00000393687.6:c.587T>C | ENSP00000377291.2:p.Phe196Ser | |
| ENST00000429936.6:c.665T>C | ENSP00000392662.2:p.Phe222Ser | |
| ENST00000444230.5:c.528+234T>C | ENSP00000399974.1:n.528+234T>C | |
| ENST00000463031.1:n.205T>C | ||
| NM_001025242.1:c.587T>C | NP_001020413.1:p.Phe196Ser | |
| NM_001025243.1:c.587T>C | NP_001020414.1:p.Phe196Ser | |
| NM_001569.3:c.587T>C | NP_001560.2:p.Phe196Ser | |
| XM_005274668.2:c.665T>C | XP_005274725.1:p.Phe222Ser | |
| XM_011531158.1:c.587T>C | XP_011529460.1:p.Phe196Ser | |
| XM_005274668.4:c.665T>C | XP_005274725.1:p.Phe222Ser | |
| NM_001569.4:c.587T>C MANE Select | NP_001560.2:p.Phe196Ser | |
| NM_001025242.2:c.587T>C | NP_001020413.1:p.Phe196Ser | |
| NM_001025243.2:c.587T>C | NP_001020414.1:p.Phe196Ser |