Linked Data
dbSNP Id:
rs1300989254
gnomAD v2:
19-13245816-A-G
gnomAD v3:
19-13135002-A-G
gnomAD v4:
19-13135002-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.13135002A>G , CM000681.2:g.13135002A>G | GRCh38 |
| NC_000019.9:g.13245816A>G , CM000681.1:g.13245816A>G | GRCh37 |
| NC_000019.8:g.13106816A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000586171.3:c.-8-198A>G | ENSP00000467120.2:n.-8-198A>G | |
| ENST00000700232.1:c.-8-198A>G | ENSP00000514870.1:n.-8-198A>G | |
| ENST00000292431.5:c.-8-198A>G MANE Select | ENSP00000292431.3:n.-8-198A>G | |
| ENST00000586171.2:c.-8-198A>G | ENSP00000467120.1:n.-8-198A>G | |
| ENST00000292431.4:c.-8-198A>G | ENSP00000292431.3:n.-8-198A>G | |
| ENST00000586171.1:c.-8-198A>G | ENSP00000467120.1:n.-8-198A>G | |
| NM_052876.3:c.-8-198A>G | NP_443108.1:n.-8-198A>G | |
| XM_005259721.2:c.-8-198A>G | XP_005259778.1:n.-8-198A>G | |
| XM_005259721.3:c.-8-198A>G | XP_005259778.1:n.-8-198A>G | |
| NM_052876.4:c.-8-198A>G MANE Select | NP_443108.1:n.-8-198A>G |