Linked Data
dbSNP Id:
rs1295527541
gnomAD v2:
16-47732553-C-T
gnomAD v3:
16-47698642-C-T
gnomAD v4:
16-47698642-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.47698642C>T , CM000678.2:g.47698642C>T | GRCh38 |
| NC_000016.9:g.47732553C>T , CM000678.1:g.47732553C>T | GRCh37 |
| NC_000016.8:g.46290054C>T | NCBI36 |
| NG_016598.1:g.242344C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696809.1:c.*1718+54C>T | ENSP00000512887.1:n.*1718+54C>T | |
| ENST00000699276.1:c.*772+54C>T | ENSP00000514257.1:n.*772+54C>T | |
| ENST00000323584.10:c.3144+54C>T MANE Select | ENSP00000313504.5:n.3144+54C>T | |
| ENST00000299167.12:c.3144+54C>T | ENSP00000299167.8:n.3144+54C>T | |
| ENST00000323584.9:c.3144+54C>T | ENSP00000313504.5:n.3144+54C>T | |
| ENST00000564711.2:c.158+54C>T | ||
| ENST00000566044.5:c.3123+54C>T | ENSP00000456729.1:n.3123+54C>T | |
| ENST00000566319.2:n.1960+54C>T | ||
| NM_000293.2:c.3144+54C>T | NP_000284.1:n.3144+54C>T | |
| NM_001031835.2:c.3123+54C>T | NP_001027005.1:n.3123+54C>T | |
| XM_005255983.3:c.3144+54C>T | XP_005256040.1:n.3144+54C>T | |
| XM_005255984.3:c.3123+54C>T | XP_005256041.1:n.3123+54C>T | |
| XM_011523107.1:c.1722+54C>T | XP_011521409.1:n.1722+54C>T | |
| NM_001363837.1:c.3144+54C>T | NP_001350766.1:n.3144+54C>T | |
| XM_005255983.4:c.3144+54C>T | XP_005256040.1:n.3144+54C>T | |
| XM_005255984.4:c.3123+54C>T | XP_005256041.1:n.3123+54C>T | |
| XM_017023282.1:c.2031+54C>T | XP_016878771.1:n.2031+54C>T | |
| XM_017023283.1:c.1722+54C>T | XP_016878772.1:n.1722+54C>T | |
| XM_017023284.1:c.1722+54C>T | XP_016878773.1:n.1722+54C>T | |
| XR_001751913.1:n.3068+54C>T | ||
| NM_000293.3:c.3144+54C>T MANE Select | NP_000284.1:n.3144+54C>T | |
| NM_001031835.3:c.3123+54C>T | NP_001027005.1:n.3123+54C>T |