Linked Data
dbSNP Id:
rs1598816673
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31531442A>C , CM000680.2:g.31531442A>C | GRCh38 |
| NC_000018.9:g.29111405A>C , CM000680.1:g.29111405A>C | GRCh37 |
| NC_000018.8:g.27365403A>C | NCBI36 |
| NG_007072.3:g.38201A>C , LRG_397:g.38201A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683614.2:n.1301A>C | ||
| ENST00000683614.1:c.1301A>C | ||
| ENST00000261590.13:c.1280+190A>C MANE Select | ENSP00000261590.8:n.1280+190A>C | |
| ENST00000261590.12:c.1280+190A>C | ENSP00000261590.8:n.1280+190A>C | |
| NM_001943.3:c.1280+190A>C , LRG_397t1:c.1280+190A>C | NP_001934.2:n.1280+190A>C | |
| NM_001943.4:c.1280+190A>C | NP_001934.2:n.1280+190A>C | |
| XM_024451095.1:c.746+190A>C | XP_024306863.1:n.746+190A>C | |
| NM_001943.5:c.1280+190A>C MANE Select | NP_001934.2:n.1280+190A>C |