gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.50600917G>A , CM000677.2:g.50600917G>A | GRCh38 |
| NC_000015.9:g.50893114G>A , CM000677.1:g.50893114G>A | GRCh37 |
| NC_000015.8:g.48680406G>A | NCBI36 |
| NG_021363.1:g.90899C>T | |
| NG_021363.2:g.90899C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646667.1:c.2989-1621C>T MANE Select | ENSP00000495860.1:n.2989-1621C>T | |
| ENST00000313478.11:c.2989-1621C>T | ENSP00000320239.7:n.2989-1621C>T | |
| ENST00000560955.5:c.2989-1621C>T | ENSP00000453277.1:n.2989-1621C>T | |
| NM_001301212.1:c.2989-1621C>T | NP_001288141.1:n.2989-1621C>T | |
| NM_017672.5:c.2989-1621C>T | NP_060142.3:n.2989-1621C>T | |
| XM_005254486.2:c.2989-1621C>T | XP_005254543.1:n.2989-1621C>T | |
| XM_005254487.2:c.2989-1621C>T | XP_005254544.1:n.2989-1621C>T | |
| XM_011521712.1:c.2989-1671C>T | XP_011520014.1:n.2989-1671C>T | |
| XR_931853.1:n.3271-1621C>T | ||
| NR_149152.1:n.3271-1671C>T | ||
| NR_149153.1:n.3271-1621C>T | ||
| NR_149154.1:n.3198-1621C>T | ||
| XM_005254486.4:c.2989-1621C>T | XP_005254543.1:n.2989-1621C>T | |
| XM_017022350.1:c.3016-1621C>T | XP_016877839.1:n.3016-1621C>T | |
| XM_017022351.1:c.3016-1621C>T | XP_016877840.1:n.3016-1621C>T | |
| XM_017022352.1:c.3016-1621C>T | XP_016877841.1:n.3016-1621C>T | |
| XM_017022353.2:c.3016-1621C>T | XP_016877842.1:n.3016-1621C>T | |
| XM_017022354.1:c.2812-1621C>T | XP_016877843.1:n.2812-1621C>T | |
| XM_017022355.1:c.2812-1621C>T | XP_016877844.1:n.2812-1621C>T | |
| XR_001751325.1:n.3031-1621C>T | ||
| XR_001751326.2:n.3031-1621C>T | ||
| XR_001751327.1:n.3031-1621C>T | ||
| XR_001751328.2:n.3031-1621C>T | ||
| XR_002957653.1:n.3031-1621C>T | ||
| XR_002957654.1:n.3031-1671C>T | ||
| NM_017672.6:c.2989-1621C>T MANE Select | NP_060142.3:n.2989-1621C>T | |
| NM_001301212.2:c.2989-1621C>T | NP_001288141.1:n.2989-1621C>T | |
| NR_149152.2:n.3253-1671C>T | ||
| NR_149153.2:n.3253-1621C>T | ||
| NR_149154.2:n.3180-1621C>T |