Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38327474T>C , CM000681.2:g.38327474T>C | GRCh38 |
| NC_000019.9:g.38818114T>C , CM000681.1:g.38818114T>C | GRCh37 |
| NC_000019.8:g.43509954T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004823.3:c.*71T>C MANE Select | NP_004814.1:n.*71T>C |
| ENST00000263372.5:c.*71T>C MANE Select | ENSP00000263372.2:n.*71T>C |
| NM_004823.1:c.*71T>C | NP_004814.1:n.*71T>C |
| NM_004823.2:c.*71T>C | NP_004814.1:n.*71T>C |
| ENST00000263372.4:c.*71T>C | ENSP00000263372.2:n.*71T>C |
| XM_011527526.1:c.*71T>C | XP_011525828.1:n.*71T>C |
| XM_024451788.1:c.*71T>C | XP_024307556.1:n.*71T>C |