Linked Data
dbSNP Id:
rs1303486330
gnomAD v2:
2-189873438-T-C
gnomAD v3:
2-189008712-T-C
gnomAD v4:
2-189008712-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189008712T>C , CM000664.2:g.189008712T>C | GRCh38 |
| NC_000002.11:g.189873438T>C , CM000664.1:g.189873438T>C | GRCh37 |
| NC_000002.10:g.189581683T>C | NCBI36 |
| NG_007404.1:g.39340T>C , LRG_3:g.39340T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.3427-212T>C | ENSP00000415346.2:n.3427-212T>C | |
| ENST00000304636.9:c.3526-212T>C MANE Select | ENSP00000304408.4:n.3526-212T>C | |
| ENST00000304636.7:c.3526-212T>C | ENSP00000304408.3:n.3526-212T>C | |
| ENST00000317840.9:c.2617-212T>C | ENSP00000315243.6:n.2617-212T>C | |
| ENST00000487010.1:n.411T>C | ||
| NM_000090.3:c.3526-212T>C , LRG_3t1:c.3526-212T>C | NP_000081.1:n.3526-212T>C | |
| NM_000090.4:c.3526-212T>C MANE Select | NP_000081.2:n.3526-212T>C |