Linked Data
gnomAD v4:
2-135907318-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135907318A>G , CM000664.2:g.135907318A>G | GRCh38 |
| NC_000002.11:g.136664888A>G , CM000664.1:g.136664888A>G | GRCh37 |
| NC_000002.10:g.136381358A>G | NCBI36 |
| NG_034149.1:g.83367T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264161.9:c.1504T>C MANE Select | ENSP00000264161.4:p.Ter502Gln | |
| ENST00000264161.8:c.1504T>C | ENSP00000264161.4:p.Ter502Gln | |
| ENST00000422708.3:c.565T>C | ENSP00000387508.1:p.Ter189Gln | |
| ENST00000478212.5:n.398T>C | ||
| ENST00000489964.5:n.753T>C | ||
| NM_001293312.1:c.1204T>C | NP_001280241.1:p.Ter402Gln | |
| NM_001349.3:c.1504T>C | NP_001340.2:p.Ter502Gln | |
| NM_001349.4:c.1504T>C MANE Select | NP_001340.2:p.Ter502Gln |