Linked Data
ClinVar Variation Id:
21538
dbSNP Id:
rs113993992
gnomAD v2:
7-66459198-C-G
gnomAD v3:
7-66994211-C-G
gnomAD v4:
7-66994211-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.66994211C>G , CM000669.2:g.66994211C>G | GRCh38 |
| NC_000007.13:g.66459198C>G , CM000669.1:g.66459198C>G | GRCh37 |
| NC_000007.12:g.66096633C>G | NCBI36 |
| NG_007277.1:g.6391G>C , LRG_104:g.6391G>C | |
| NG_033069.1:g.2407C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000414306.6:c.250+9G>C | ENSP00000394586.1:n.250+9G>C | |
| ENST00000697860.1:n.225+1G>C | ||
| ENST00000697861.1:c.258+1G>C | ENSP00000513460.1:n.258+1G>C | |
| ENST00000697862.1:c.258+1G>C | ENSP00000513461.1:n.258+1G>C | |
| ENST00000697863.1:c.201+1G>C | ENSP00000513462.1:n.201+1G>C | |
| ENST00000697864.1:n.1402+1G>C | ||
| ENST00000697865.1:c.201+1G>C | ENSP00000513463.1:n.201+1G>C | |
| ENST00000697866.1:c.-61+1G>C | ENSP00000513464.1:n.-61+1G>C | |
| ENST00000697867.1:c.98+1G>C | ||
| ENST00000697868.1:c.*22+1G>C | ENSP00000513466.1:n.*22+1G>C | |
| ENST00000697869.1:c.194+1G>C | ENSP00000513467.1:n.194+1G>C | |
| ENST00000697897.1:c.258+1G>C | ENSP00000513469.1:n.258+1G>C | |
| ENST00000246868.7:c.258+1G>C MANE Select | ENSP00000246868.2:n.258+1G>C | |
| ENST00000246868.6:c.258+1G>C | ENSP00000246868.2:n.258+1G>C | |
| ENST00000414306.5:c.250+9G>C | ENSP00000394586.1:n.250+9G>C | |
| ENST00000463579.1:n.147+9G>C | ||
| ENST00000490953.5:n.399+9G>C | ||
| ENST00000617799.1:c.258+1G>C | ENSP00000483040.1:n.258+1G>C | |
| NM_016038.2:c.258+1G>C , LRG_104t1:c.258+1G>C | NP_057122.2:n.258+1G>C | |
| NM_016038.3:c.258+1G>C | NP_057122.2:n.258+1G>C | |
| NM_016038.4:c.258+1G>C MANE Select | NP_057122.2:n.258+1G>C |