Linked Data
gnomAD v4:
9-92718627-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.92718627A>G , CM000671.2:g.92718627A>G | GRCh38 |
| NC_000009.11:g.95480909A>G , CM000671.1:g.95480909A>G | GRCh37 |
| NC_000009.10:g.94520730A>G | NCBI36 |
| NG_033908.1:g.51175T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356884.11:c.2018T>C MANE Select | ENSP00000349351.6:p.Met673Thr | |
| ENST00000356884.10:c.2018T>C | ENSP00000349351.6:p.Met673Thr | |
| ENST00000375512.3:c.2018T>C | ENSP00000364662.3:p.Met673Thr | |
| NM_001003800.1:c.2018T>C | NP_001003800.1:p.Met673Thr | |
| NM_015250.3:c.2018T>C | NP_056065.1:p.Met673Thr | |
| XM_017014551.1:c.2099T>C | XP_016870040.1:p.Met700Thr | |
| NM_001003800.2:c.2018T>C MANE Select | NP_001003800.1:p.Met673Thr | |
| NM_015250.4:c.2018T>C | NP_056065.1:p.Met673Thr |