Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.2275080A>C , CM000681.2:g.2275080A>C | GRCh38 |
| NC_000019.9:g.2275079A>C , CM000681.1:g.2275079A>C | GRCh37 |
| NC_000019.8:g.2226079A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000342063.5:c.*600T>G MANE Select | ENSP00000345102.3:n.*600T>G | |
| ENST00000342063.4:c.*600T>G | ENSP00000345102.3:n.*600T>G | |
| ENST00000621615.1:c.146+5336A>C | ENSP00000481965.1:n.146+5336A>C | |
| NM_198532.2:c.*600T>G | NP_940934.1:n.*600T>G | |
| NM_198532.3:c.*600T>G MANE Select | NP_940934.1:n.*600T>G |