Linked Data
ClinVar Variation Id:
798158
ClinVar RCV Id:
RCV001521520
dbSNP Id:
rs781898144
ExAC:
X:48546814 G / C
gnomAD v2:
X-48546814-G-C
gnomAD v3:
X-48688425-G-C
gnomAD v4:
X-48688425-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48688425G>C , CM000685.2:g.48688425G>C | GRCh38 |
| NC_000023.10:g.48546814G>C , CM000685.1:g.48546814G>C | GRCh37 |
| NC_000023.9:g.48431758G>C | NCBI36 |
| NG_007877.1:g.9629G>C , LRG_125:g.9629G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474174.2:n.147G>C | ||
| ENST00000698625.1:c.903G>C | ENSP00000513844.1:p.Glu301Asp | |
| ENST00000698626.1:c.903G>C | ENSP00000513845.1:p.Glu301Asp | |
| ENST00000698635.1:c.903G>C | ENSP00000513850.1:p.Glu301Asp | |
| ENST00000376701.5:c.903G>C MANE Select | ENSP00000365891.4:p.Glu301Asp | |
| ENST00000376701.4:c.903G>C | ENSP00000365891.4:p.Glu301Asp | |
| ENST00000474174.1:n.147G>C | ||
| NM_000377.2:c.903G>C , LRG_125t1:c.903G>C | NP_000368.1:p.Glu301Asp | |
| XM_011543977.1:c.903G>C | XP_011542279.1:p.Glu301Asp | |
| XM_011543977.2:c.903G>C | XP_011542279.1:p.Glu301Asp | |
| XM_017029786.1:c.903G>C | XP_016885275.1:p.Glu301Asp | |
| NM_000377.3:c.903G>C MANE Select | NP_000368.1:p.Glu301Asp |