Linked Data
dbSNP Id:
rs1206811148
gnomAD v2:
5-6620099-T-C
gnomAD v3:
5-6619986-T-C
gnomAD v4:
5-6619986-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.6619986T>C , CM000667.2:g.6619986T>C | GRCh38 |
| NC_000005.9:g.6620099T>C , CM000667.1:g.6620099T>C | GRCh37 |
| NC_000005.8:g.6673099T>C | NCBI36 |
| NG_028215.1:g.18375A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264670.11:c.815+120A>G MANE Select | ENSP00000264670.6:n.815+120A>G | |
| ENST00000264670.10:c.815+120A>G | ENSP00000264670.6:n.815+120A>G | |
| ENST00000504374.5:c.*121+120A>G | ENSP00000421783.1:n.*121+120A>G | |
| ENST00000505892.5:n.1384+120A>G | ||
| ENST00000506139.5:c.710+120A>G | ENSP00000420957.1:n.710+120A>G | |
| NM_001193455.1:c.710+120A>G | NP_001180384.1:n.710+120A>G | |
| NM_017755.5:c.815+120A>G | NP_060225.4:n.815+120A>G | |
| NR_037947.1:n.1111+120A>G | ||
| NM_017755.6:c.815+120A>G MANE Select | NP_060225.4:n.815+120A>G | |
| NM_001193455.2:c.710+120A>G | NP_001180384.1:n.710+120A>G | |
| NR_037947.2:n.795+120A>G |