Linked Data
dbSNP Id:
rs997542688
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.20164298T>G , CM000669.2:g.20164298T>G | GRCh38 |
| NC_000007.13:g.20203921T>G , CM000669.1:g.20203921T>G | GRCh37 |
| NC_000007.12:g.20170446T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400331.10:c.-51A>C MANE Select | ENSP00000383185.3:n.-51A>C | |
| ENST00000332878.8:c.-8-2428A>C | ENSP00000328410.4:n.-8-2428A>C | |
| ENST00000400331.9:c.-51A>C | ENSP00000383185.3:n.-51A>C | |
| ENST00000589011.1:c.-8-2428A>C | ENSP00000466864.1:n.-8-2428A>C | |
| NM_182762.3:c.-51A>C | NP_877439.3:n.-51A>C | |
| NM_182762.4:c.-51A>C MANE Select | NP_877439.3:n.-51A>C |