Linked Data
ClinVar Variation Id:
437265
dbSNP Id:
rs1409607754
gnomAD v2:
X-48547197-A-C
gnomAD v3:
X-48688808-A-C
gnomAD v4:
X-48688808-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48688808A>C , CM000685.2:g.48688808A>C | GRCh38 |
| NC_000023.10:g.48547197A>C , CM000685.1:g.48547197A>C | GRCh37 |
| NC_000023.9:g.48432141A>C | NCBI36 |
| NG_007877.1:g.10012A>C , LRG_125:g.10012A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474174.2:n.324A>C | ||
| ENST00000698625.1:c.1080A>C | ENSP00000513844.1:p.Pro360= | |
| ENST00000698626.1:c.1080A>C | ENSP00000513845.1:p.Pro360= | |
| ENST00000698635.1:c.1080A>C | ENSP00000513850.1:p.Pro360= | |
| ENST00000376701.5:c.1080A>C MANE Select | ENSP00000365891.4:p.Pro360= | |
| ENST00000376701.4:c.1080A>C | ENSP00000365891.4:p.Pro360= | |
| ENST00000474174.1:n.324A>C | ||
| NM_000377.2:c.1080A>C , LRG_125t1:c.1080A>C | NP_000368.1:p.Pro360= | |
| XM_011543977.1:c.932-8A>C | XP_011542279.1:n.932-8A>C | |
| XM_011543977.2:c.932-8A>C | XP_011542279.1:n.932-8A>C | |
| XM_017029786.1:c.1080A>C | XP_016885275.1:p.Pro360= | |
| NM_000377.3:c.1080A>C MANE Select | NP_000368.1:p.Pro360= |