Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.7757592T>C , CM000667.2:g.7757592T>C | GRCh38 |
| NC_000005.9:g.7757705T>C , CM000667.1:g.7757705T>C | GRCh37 |
| NC_000005.8:g.7810705T>C | NCBI36 |
| NG_046913.1:g.366363T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338316.9:c.2094+6T>C MANE Select | ENSP00000342952.4:n.2094+6T>C | |
| ENST00000338316.8:c.2094+6T>C | ENSP00000342952.4:n.2094+6T>C | |
| ENST00000537121.5:c.2088+6T>C | ENSP00000444803.2:n.2088+6T>C | |
| NM_020546.2:c.2094+6T>C | NP_065433.2:n.2094+6T>C | |
| XM_011513942.1:c.1957-9095T>C | XP_011512244.1:n.1957-9095T>C | |
| XR_427657.2:n.2108+6T>C | ||
| XM_011513942.2:c.1957-9095T>C | XP_011512244.1:n.1957-9095T>C | |
| XR_001741973.1:n.2108+6T>C | ||
| XR_001741974.2:n.2023+6T>C | ||
| NM_020546.3:c.2094+6T>C MANE Select | NP_065433.2:n.2094+6T>C |