Linked Data
gnomAD v4:
18-31498247-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31498247G>C , CM000680.2:g.31498247G>C | GRCh38 |
| NC_000018.9:g.29078210G>C , CM000680.1:g.29078210G>C | GRCh37 |
| NC_000018.8:g.27332208G>C | NCBI36 |
| NG_007072.3:g.5006G>C , LRG_397:g.5006G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682241.2:c.-5G>C | ENSP00000507600.2:n.-5G>C | |
| ENST00000683654.1:c.-5G>C | ENSP00000506971.1:n.-5G>C | |
| ENST00000261590.13:c.-5G>C MANE Select | ENSP00000261590.8:n.-5G>C | |
| ENST00000261590.12:c.-5G>C | ENSP00000261590.8:n.-5G>C | |
| ENST00000585206.1:c.-5G>C | ENSP00000462503.1:n.-5G>C | |
| NM_001943.3:c.-5G>C , LRG_397t1:c.-5G>C | NP_001934.2:n.-5G>C | |
| NM_001943.4:c.-5G>C | NP_001934.2:n.-5G>C | |
| NM_001943.5:c.-5G>C MANE Select | NP_001934.2:n.-5G>C |