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