Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101421560A>G , CM000671.2:g.101421560A>G | GRCh38 |
| NC_000009.11:g.104183842A>G , CM000671.1:g.104183842A>G | GRCh37 |
| NC_000009.10:g.103223663A>G | NCBI36 |
| NG_012387.1:g.19221T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647789.2:c.*249T>C MANE Select | ENSP00000497767.1:n.*249T>C | |
| ENST00000648064.1:c.*249T>C | ENSP00000497990.1:n.*249T>C | |
| ENST00000374855.8:c.*249T>C | ENSP00000363988.4:n.*249T>C | |
| ENST00000616752.1:c.*356T>C | ENSP00000481363.1:n.*356T>C | |
| NM_000035.3:c.*249T>C | NP_000026.2:n.*249T>C | |
| NM_000035.4:c.*249T>C MANE Select | NP_000026.2:n.*249T>C |