Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.73206579T>C , CM000679.2:g.73206579T>C | GRCh38 |
| NC_000017.10:g.71202718T>C , CM000679.1:g.71202718T>C | GRCh37 |
| NC_000017.9:g.68714313T>C | NCBI36 |
| NG_008971.1:g.18546T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018714.3:c.2620-129T>C MANE Select | NP_061184.1:n.2620-129T>C |
| ENST00000299886.9:c.2620-129T>C MANE Select | ENSP00000299886.4:n.2620-129T>C |
| NM_018714.2:c.2620-129T>C | NP_061184.1:n.2620-129T>C |
| ENST00000299886.8:c.2620-129T>C | ENSP00000299886.4:n.2620-129T>C |
| ENST00000438720.7:c.2618-129T>C | |
| ENST00000577238.1:n.326-129T>C | |
| ENST00000580271.5:n.220-129T>C | |
| ENST00000582512.5:c.176-129T>C | |
| ENST00000582672.1:c.105-129T>C | |
| ENST00000618996.4:c.2620-129T>C | ENSP00000479450.1:n.2620-129T>C |