Linked Data
ClinVar Variation Id:
137975
dbSNP Id:
rs150225895
ExAC:
17:44248203 T / C
gnomAD v2:
17-44248203-T-C
gnomAD v3:
17-46170837-T-C
gnomAD v4:
17-46170837-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.46170837T>C , CM000679.2:g.46170837T>C | GRCh38 |
| NC_000017.10:g.44248203T>C , CM000679.1:g.44248203T>C | GRCh37 |
| NC_000017.9:g.41603980T>C | NCBI36 |
| NG_032784.1:g.59538A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000432791.7:c.1289+18A>G MANE Select | ENSP00000387393.3:n.1289+18A>G | |
| ENST00000571698.2:c.1289+18A>G | ENSP00000459330.2:n.1289+18A>G | |
| ENST00000572904.6:c.1289+18A>G | ENSP00000461484.1:n.1289+18A>G | |
| ENST00000574590.6:c.1289+18A>G | ENSP00000461812.2:n.1289+18A>G | |
| ENST00000574655.6:n.1543+18A>G | ||
| ENST00000575318.6:c.1289+18A>G | ENSP00000461299.1:n.1289+18A>G | |
| ENST00000576248.2:n.369+18A>G | ||
| ENST00000638269.1:n.1533+18A>G | ||
| ENST00000638275.1:c.1289+18A>G | ENSP00000492576.1:n.1289+18A>G | |
| ENST00000638902.1:n.1411A>G | ||
| ENST00000639099.1:n.1539+18A>G | ||
| ENST00000639150.1:c.23+52834A>G | ENSP00000491906.1:n.23+52834A>G | |
| ENST00000639356.1:n.1539+18A>G | ||
| ENST00000639375.1:n.1527+18A>G | ||
| ENST00000639531.1:c.1289+18A>G | ENSP00000491765.1:n.1289+18A>G | |
| ENST00000639853.1:c.562+18A>G | ||
| ENST00000648792.1:c.1289+18A>G | ENSP00000497628.1:n.1289+18A>G | |
| ENST00000262419.10:c.1289+18A>G | ENSP00000262419.6:n.1289+18A>G | |
| ENST00000432791.5:c.1289+18A>G | ENSP00000387393.2:n.1289+18A>G | |
| ENST00000572904.5:c.1289+18A>G | ENSP00000461484.1:n.1289+18A>G | |
| ENST00000574590.5:c.1289+18A>G | ENSP00000461812.1:n.1289+18A>G | |
| ENST00000575318.5:c.1289+18A>G | ENSP00000461299.1:n.1289+18A>G | |
| ENST00000576248.1:n.265+18A>G | ||
| ENST00000577114.1:n.86+18A>G | ||
| NM_001193465.1:c.1289+18A>G | NP_001180394.1:n.1289+18A>G | |
| NM_001193466.1:c.1289+18A>G | NP_001180395.1:n.1289+18A>G | |
| NM_015443.3:c.1289+18A>G | NP_056258.1:n.1289+18A>G | |
| XM_006721823.1:c.1289+18A>G | XP_006721886.1:n.1289+18A>G | |
| XM_006721824.2:c.1289+18A>G | XP_006721887.1:n.1289+18A>G | |
| XM_011524628.1:c.1289+18A>G | XP_011522930.1:n.1289+18A>G | |
| XM_011524629.1:c.1289+18A>G | XP_011522931.1:n.1289+18A>G | |
| XM_011524630.1:c.1289+18A>G | XP_011522932.1:n.1289+18A>G | |
| XM_011524631.1:c.1289+18A>G | XP_011522933.1:n.1289+18A>G | |
| XM_011524632.1:c.10+18A>G | XP_011522934.1:n.10+18A>G | |
| XM_006721823.2:c.1289+18A>G | XP_006721886.1:n.1289+18A>G | |
| XM_006721824.4:c.1289+18A>G | XP_006721887.1:n.1289+18A>G | |
| XM_011524628.3:c.1289+18A>G | XP_011522930.1:n.1289+18A>G | |
| XM_011524629.3:c.1289+18A>G | XP_011522931.1:n.1289+18A>G | |
| XM_011524630.3:c.1289+18A>G | XP_011522932.1:n.1289+18A>G | |
| XM_011524631.3:c.1289+18A>G | XP_011522933.1:n.1289+18A>G | |
| XM_011524632.3:c.10+18A>G | XP_011522934.1:n.10+18A>G | |
| XM_017024488.2:c.1289+18A>G | XP_016879977.1:n.1289+18A>G | |
| XM_017024489.1:c.1289+18A>G | XP_016879978.1:n.1289+18A>G | |
| NM_001193466.2:c.1289+18A>G | NP_001180395.1:n.1289+18A>G | |
| NM_015443.4:c.1289+18A>G MANE Select | NP_056258.1:n.1289+18A>G | |
| NM_001193465.2:c.1289+18A>G | NP_001180394.1:n.1289+18A>G | |
| NM_001379198.1:c.1289+18A>G | NP_001366127.1:n.1289+18A>G |