Linked Data
gnomAD v4:
18-31531169-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31531169G>C , CM000680.2:g.31531169G>C | GRCh38 |
| NC_000018.9:g.29111132G>C , CM000680.1:g.29111132G>C | GRCh37 |
| NC_000018.8:g.27365130G>C | NCBI36 |
| NG_007072.3:g.37928G>C , LRG_397:g.37928G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683614.2:n.1028G>C | ||
| ENST00000683614.1:c.1028G>C | ||
| ENST00000261590.13:c.1197G>C MANE Select | ENSP00000261590.8:p.Glu399Asp | |
| ENST00000261590.12:c.1197G>C | ENSP00000261590.8:p.Glu399Asp | |
| NM_001943.3:c.1197G>C , LRG_397t1:c.1197G>C | NP_001934.2:p.Glu399Asp | |
| NM_001943.4:c.1197G>C | NP_001934.2:p.Glu399Asp | |
| XM_024451095.1:c.663G>C | XP_024306863.1:p.Glu221Asp | |
| NM_001943.5:c.1197G>C MANE Select | NP_001934.2:p.Glu399Asp |