Linked Data
ClinVar Variation Id:
103351
ClinVar RCV Id:
RCV000089611
dbSNP Id:
rs199475890
ExAC:
11:7091711 G / C
gnomAD v2:
11-7091711-G-C
gnomAD v3:
11-7070480-G-C
gnomAD v4:
11-7070480-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.7070480G>C , CM000673.2:g.7070480G>C | GRCh38 |
| NC_000011.9:g.7091711G>C , CM000673.1:g.7091711G>C | GRCh37 |
| NC_000011.8:g.7048287G>C | NCBI36 |
| NG_046900.1:g.55035G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299481.5:c.3146+24G>C MANE Select | ENSP00000299481.5:n.3146+24G>C | |
| ENST00000299481.4:c.3146+24G>C | ENSP00000299481.4:n.3146+24G>C | |
| NM_176822.3:c.3146+24G>C | NP_789792.1:n.3146+24G>C | |
| XM_011520044.1:c.2975+24G>C | XP_011518346.1:n.2975+24G>C | |
| XM_011520045.1:c.2975+24G>C | XP_011518347.1:n.2975+24G>C | |
| NM_176822.4:c.3146+24G>C MANE Select | NP_789792.1:n.3146+24G>C |