Linked Data
dbSNP Id:
rs1257621903
gnomAD v2:
6-41253740-A-C
gnomAD v3:
6-41286002-A-C
gnomAD v4:
6-41286002-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.41286002A>C , CM000668.2:g.41286002A>C | GRCh38 |
| NC_000006.11:g.41253740A>C , CM000668.1:g.41253740A>C | GRCh37 |
| NC_000006.10:g.41361718A>C | NCBI36 |
| NG_029525.1:g.5718T>G | |
| NG_029525.2:g.5718T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244709.9:c.49+605T>G MANE Select | ENSP00000244709.3:n.49+605T>G | |
| ENST00000244709.8:c.49+605T>G | ENSP00000244709.3:n.49+605T>G | |
| ENST00000334475.10:c.49+605T>G | ENSP00000334284.5:n.49+605T>G | |
| ENST00000586287.1:n.76+605T>G | ||
| ENST00000589614.5:c.49+605T>G | ENSP00000465688.1:n.49+605T>G | |
| ENST00000591620.1:c.49+605T>G | ENSP00000465345.1:n.49+605T>G | |
| NM_001242589.1:c.49+605T>G | NP_001229518.1:n.49+605T>G | |
| NM_001242590.1:c.49+605T>G | NP_001229519.1:n.49+605T>G | |
| NM_018643.3:c.49+605T>G | NP_061113.1:n.49+605T>G | |
| XM_006715117.2:c.49+605T>G | XP_006715180.1:n.49+605T>G | |
| XM_011514696.1:c.49+605T>G | XP_011512998.1:n.49+605T>G | |
| XM_011514697.1:c.49+605T>G | XP_011512999.1:n.49+605T>G | |
| NM_001242589.2:c.49+605T>G | NP_001229518.1:n.49+605T>G | |
| NM_001242590.2:c.49+605T>G | NP_001229519.1:n.49+605T>G | |
| NM_018643.4:c.49+605T>G | NP_061113.1:n.49+605T>G | |
| NR_136332.1:n.139+605T>G | ||
| XM_006715117.3:c.49+605T>G | XP_006715180.1:n.49+605T>G | |
| XM_011514696.2:c.49+605T>G | XP_011512998.1:n.49+605T>G | |
| XM_017010956.2:c.49+605T>G | XP_016866445.1:n.49+605T>G | |
| XM_017010957.1:c.49+605T>G | XP_016866446.1:n.49+605T>G | |
| NM_018643.5:c.49+605T>G MANE Select | NP_061113.1:n.49+605T>G | |
| NM_001242589.3:c.49+605T>G | NP_001229518.1:n.49+605T>G | |
| NM_001242590.3:c.49+605T>G | NP_001229519.1:n.49+605T>G | |
| NR_136332.2:n.76+605T>G |