Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.98585729T>C , CM000665.2:g.98585729T>C | GRCh38 |
| NC_000003.11:g.98304573T>C , CM000665.1:g.98304573T>C | GRCh37 |
| NC_000003.10:g.99787263T>C | NCBI36 |
| NG_015994.1:g.12883A>G | |
| NG_015994.2:g.12883A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647941.2:c.954-70A>G MANE Select | ENSP00000497326.1:n.954-70A>G | |
| ENST00000264193.2:c.954-70A>G | ENSP00000264193.2:n.954-70A>G | |
| ENST00000510489.1:n.134A>G | ||
| NM_000097.5:c.954-70A>G | NP_000088.3:n.954-70A>G | |
| XM_005247125.3:c.954-70A>G | XP_005247182.1:n.954-70A>G | |
| NM_000097.7:c.954-70A>G MANE Select | NP_000088.3:n.954-70A>G | |
| XM_005247125.4:c.954-70A>G | XP_005247182.1:n.954-70A>G | |
| XR_001740025.2:n.1125-70A>G | ||
| XR_001740026.1:n.1619A>G | ||
| XR_001740027.1:n.1229-70A>G | ||
| XR_001740028.1:n.1195-70A>G |