ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.206775286T>C , CM000663.2:g.206775286T>C | GRCh38 |
| NC_000001.10:g.206948631T>C , CM000663.1:g.206948631T>C | GRCh37 |
| NC_000001.9:g.205015254T>C | NCBI36 |
| NG_012088.1:g.2209A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000659997.3:c.-149+4208T>C MANE Select | ENSP00000499459.2:n.-149+4208T>C | |
| ENST00000656872.2:c.-149+4456T>C | ENSP00000499487.2:n.-149+4456T>C | |
| ENST00000659997.2:c.-149+4208T>C | ENSP00000499459.2:n.-149+4208T>C | |
| ENST00000662320.1:n.67+4456T>C | ||
| NM_153758.3:c.-35+4208T>C | NP_715639.1:n.-35+4208T>C | |
| NM_001393490.1:c.-149+4456T>C | NP_001380419.1:n.-149+4456T>C | |
| NM_153758.5:c.-149+4208T>C MANE Select | NP_715639.2:n.-149+4208T>C |