Linked Data
dbSNP Id:
rs3789205
gnomAD v2:
6-41253915-A-G
gnomAD v3:
6-41286177-A-G
gnomAD v4:
6-41286177-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.41286177A>G , CM000668.2:g.41286177A>G | GRCh38 |
| NC_000006.11:g.41253915A>G , CM000668.1:g.41253915A>G | GRCh37 |
| NC_000006.10:g.41361893A>G | NCBI36 |
| NG_029525.1:g.5543T>C | |
| NG_029525.2:g.5543T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000244709.9:c.49+430T>C MANE Select | ENSP00000244709.3:n.49+430T>C | |
| ENST00000244709.8:c.49+430T>C | ENSP00000244709.3:n.49+430T>C | |
| ENST00000334475.10:c.49+430T>C | ENSP00000334284.5:n.49+430T>C | |
| ENST00000586287.1:n.76+430T>C | ||
| ENST00000589614.5:c.49+430T>C | ENSP00000465688.1:n.49+430T>C | |
| ENST00000591620.1:c.49+430T>C | ENSP00000465345.1:n.49+430T>C | |
| NM_001242589.1:c.49+430T>C | NP_001229518.1:n.49+430T>C | |
| NM_001242590.1:c.49+430T>C | NP_001229519.1:n.49+430T>C | |
| NM_018643.3:c.49+430T>C | NP_061113.1:n.49+430T>C | |
| XM_006715117.2:c.49+430T>C | XP_006715180.1:n.49+430T>C | |
| XM_011514696.1:c.49+430T>C | XP_011512998.1:n.49+430T>C | |
| XM_011514697.1:c.49+430T>C | XP_011512999.1:n.49+430T>C | |
| NM_001242589.2:c.49+430T>C | NP_001229518.1:n.49+430T>C | |
| NM_001242590.2:c.49+430T>C | NP_001229519.1:n.49+430T>C | |
| NM_018643.4:c.49+430T>C | NP_061113.1:n.49+430T>C | |
| NR_136332.1:n.139+430T>C | ||
| XM_006715117.3:c.49+430T>C | XP_006715180.1:n.49+430T>C | |
| XM_011514696.2:c.49+430T>C | XP_011512998.1:n.49+430T>C | |
| XM_017010956.2:c.49+430T>C | XP_016866445.1:n.49+430T>C | |
| XM_017010957.1:c.49+430T>C | XP_016866446.1:n.49+430T>C | |
| NM_018643.5:c.49+430T>C MANE Select | NP_061113.1:n.49+430T>C | |
| NM_001242589.3:c.49+430T>C | NP_001229518.1:n.49+430T>C | |
| NM_001242590.3:c.49+430T>C | NP_001229519.1:n.49+430T>C | |
| NR_136332.2:n.76+430T>C |