Linked Data
gnomAD v4:
1-115033449-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115033449G>A , CM000663.2:g.115033449G>A | GRCh38 |
| NC_000001.10:g.115576070G>A , CM000663.1:g.115576070G>A | GRCh37 |
| NC_000001.9:g.115377593G>A | NCBI36 |
| NG_015891.1:g.8656G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256592.3:c.87G>A MANE Select | ENSP00000256592.1:p.Met29Ile | |
| ENST00000256592.2:c.87G>A | ENSP00000256592.1:p.Met29Ile | |
| ENST00000369517.1:c.87G>A | ENSP00000358530.1:p.Met29Ile | |
| NM_000549.4:c.87G>A | NP_000540.2:p.Met29Ile | |
| XM_011542065.1:c.87G>A | XP_011540367.1:p.Met29Ile | |
| XM_011542065.2:c.87G>A | XP_011540367.1:p.Met29Ile | |
| NM_000549.5:c.87G>A MANE Select | NP_000540.2:p.Met29Ile |