Linked Data
ClinVar Variation Id:
138054
dbSNP Id:
rs372150992
ExAC:
7:66104036 T / C
gnomAD v2:
7-66104036-T-C
gnomAD v3:
7-66639049-T-C
gnomAD v4:
7-66639049-T-C
COSMIC:
COSM3085866
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.66639049T>C , CM000669.2:g.66639049T>C | GRCh38 |
| NC_000007.13:g.66104036T>C , CM000669.1:g.66104036T>C | GRCh37 |
| NC_000007.12:g.65741471T>C | NCBI36 |
| NG_028110.1:g.15169T>C | |
| NG_028110.2:g.15169T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000275532.8:c.647T>C | ENSP00000275532.4:p.Met216Thr | |
| ENST00000449064.6:c.505+120T>C | ||
| ENST00000503687.2:c.397+120T>C | ENSP00000421074.1:n.397+120T>C | |
| ENST00000638524.1:c.512T>C | ||
| ENST00000638540.1:c.491T>C | ||
| ENST00000639828.2:c.687T>C MANE Select | ENSP00000492240.1:p.Asp229= | |
| ENST00000639879.1:c.*550T>C | ENSP00000492161.1:n.*550T>C | |
| ENST00000640234.1:c.437+120T>C | ||
| ENST00000640385.1:c.687T>C | ENSP00000491193.1:p.Asp229= | |
| ENST00000640601.1:c.194T>C | ||
| ENST00000640851.1:c.568-79T>C | ENSP00000492577.1:n.568-79T>C | |
| ENST00000275532.7:c.687T>C | ENSP00000275532.3:p.Asp229= | |
| ENST00000443322.1:c.687T>C | ENSP00000411624.1:p.Asp229= | |
| ENST00000503687.1:c.397+120T>C | ENSP00000421074.1:n.397+120T>C | |
| NM_001167961.2:c.687T>C | NP_001161433.1:p.Asp229= | |
| NM_153033.4:c.687T>C | NP_694578.1:p.Asp229= | |
| NM_153033.5:c.687T>C MANE Select | NP_694578.1:p.Asp229= |