Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237554257T>C , CM000664.2:g.237554257T>C | GRCh38 |
| NC_000002.11:g.238462900T>C , CM000664.1:g.238462900T>C | GRCh37 |
| NC_000002.10:g.238127639T>C | NCBI36 |
| NG_007286.1:g.71971T>C , LRG_83:g.71971T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264605.8:c.*665T>C MANE Select | ENSP00000264605.3:n.*665T>C | |
| ENST00000264605.7:c.*665T>C | ENSP00000264605.3:n.*665T>C | |
| NM_001042467.2:c.*665T>C | NP_001035932.1:n.*665T>C | |
| NM_001281473.1:c.*665T>C | NP_001268402.1:n.*665T>C | |
| NM_001281474.1:c.*665T>C | NP_001268403.1:n.*665T>C | |
| NM_024101.6:c.*665T>C | NP_077006.1:n.*665T>C | |
| NR_104019.1:n.2900T>C | ||
| NM_024101.7:c.*665T>C MANE Select | NP_077006.1:n.*665T>C | |
| NM_001042467.3:c.*665T>C | NP_001035932.1:n.*665T>C | |
| NM_001281473.2:c.*665T>C | NP_001268402.1:n.*665T>C | |
| NM_001281474.2:c.*665T>C | NP_001268403.1:n.*665T>C | |
| NR_104019.2:n.2868T>C |