Linked Data
gnomAD v4:
2-237554110-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237554110G>T , CM000664.2:g.237554110G>T | GRCh38 |
| NC_000002.11:g.238462753G>T , CM000664.1:g.238462753G>T | GRCh37 |
| NC_000002.10:g.238127492G>T | NCBI36 |
| NG_007286.1:g.71824G>T , LRG_83:g.71824G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264605.8:c.*518G>T MANE Select | ENSP00000264605.3:n.*518G>T | |
| ENST00000264605.7:c.*518G>T | ENSP00000264605.3:n.*518G>T | |
| NM_001042467.2:c.*518G>T | NP_001035932.1:n.*518G>T | |
| NM_001281473.1:c.*518G>T | NP_001268402.1:n.*518G>T | |
| NM_001281474.1:c.*518G>T | NP_001268403.1:n.*518G>T | |
| NM_024101.6:c.*518G>T | NP_077006.1:n.*518G>T | |
| NR_104019.1:n.2753G>T | ||
| NM_024101.7:c.*518G>T MANE Select | NP_077006.1:n.*518G>T | |
| NM_001042467.3:c.*518G>T | NP_001035932.1:n.*518G>T | |
| NM_001281473.2:c.*518G>T | NP_001268402.1:n.*518G>T | |
| NM_001281474.2:c.*518G>T | NP_001268403.1:n.*518G>T | |
| NR_104019.2:n.2721G>T |