dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133637199G>C , CM000671.2:g.133637199G>C | GRCh38 |
| NC_000009.11:g.136502321G>C , CM000671.1:g.136502321G>C | GRCh37 |
| NC_000009.10:g.135492142G>C | NCBI36 |
| NG_008645.1:g.5837G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263611.3:c.333+489G>C | ENSP00000263611.3:n.333+489G>C | |
| ENST00000393056.8:c.339+489G>C MANE Select | ENSP00000376776.2:n.339+489G>C | |
| ENST00000263611.2:c.297+489G>C | ENSP00000263611.2:n.297+489G>C | |
| ENST00000393056.6:c.339+489G>C | ENSP00000376776.2:n.339+489G>C | |
| NM_000787.3:c.339+489G>C | NP_000778.3:n.339+489G>C | |
| NM_000787.4:c.339+489G>C MANE Select | NP_000778.3:n.339+489G>C |