Linked Data
ClinVar Variation Id:
2817729
ClinVar RCV Id:
RCV003599123
dbSNP Id:
rs281865452
gnomAD v2:
12-103240737-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102846959T>G , CM000674.2:g.102846959T>G | GRCh38 |
| NC_000012.11:g.103240737T>G , CM000674.1:g.103240737T>G | GRCh37 |
| NC_000012.10:g.101764867T>G | NCBI36 |
| NG_008690.1:g.75644A>C | |
| NG_008690.2:g.116452A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.913-8A>C MANE Select | ENSP00000448059.1:n.913-8A>C | |
| ENST00000307000.7:c.898-8A>C | ENSP00000303500.2:n.898-8A>C | |
| ENST00000549247.6:n.672-8A>C | ||
| ENST00000551114.2:n.575-8A>C | ||
| ENST00000553106.5:c.913-8A>C | ENSP00000448059.1:n.913-8A>C | |
| ENST00000635477.1:c.74-2528A>C | ||
| ENST00000635528.1:n.420A>C | ||
| NM_000277.1:c.913-8A>C | NP_000268.1:n.913-8A>C | |
| XM_011538422.1:c.913-2528A>C | XP_011536724.1:n.913-2528A>C | |
| NM_000277.2:c.913-8A>C | NP_000268.1:n.913-8A>C | |
| NM_001354304.1:c.913-8A>C | NP_001341233.1:n.913-8A>C | |
| NM_000277.3:c.913-8A>C MANE Select | NP_000268.1:n.913-8A>C | |
| NM_001354304.2:c.913-8A>C | NP_001341233.1:n.913-8A>C |