Linked Data
dbSNP Id:
rs1335100903
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.142954173G>C , CM000669.2:g.142954173G>C | GRCh38 |
| NC_000007.13:g.142651260G>C , CM000669.1:g.142651260G>C | GRCh37 |
| NC_000007.12:g.142361382G>C | NCBI36 |
| NG_007492.1:g.13244C>G | |
| NG_007492.2:g.13244C>G | |
| NG_007492.3:g.13244C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355265.7:c.924+11C>G MANE Select | ENSP00000347409.2:n.924+11C>G | |
| ENST00000355265.6:c.924+11C>G | ENSP00000347409.2:n.924+11C>G | |
| ENST00000479768.6:n.1042+11C>G | ||
| NM_000420.2:c.924+11C>G | NP_000411.1:n.924+11C>G | |
| XM_005249993.2:c.960+11C>G | XP_005250050.1:n.960+11C>G | |
| XM_005249994.3:c.-24+11C>G | XP_005250051.1:n.-24+11C>G | |
| NM_000420.3:c.924+11C>G MANE Select | NP_000411.1:n.924+11C>G |