Linked Data
ClinVar Variation Id:
298938
ClinVar RCV Id:
RCV000361792
dbSNP Id:
rs3740529
gnomAD v2:
10-115348997-T-G
gnomAD v3:
10-113589238-T-G
gnomAD v4:
10-113589238-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.113589238T>G , CM000672.2:g.113589238T>G | GRCh38 |
| NC_000010.10:g.115348997T>G , CM000672.1:g.115348997T>G | GRCh37 |
| NC_000010.9:g.115338987T>G | NCBI36 |
| NG_008956.1:g.41220T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351270.4:c.*869T>G (HABP2) MANE Select | ENSP00000277903.4:n.*869T>G | |
| ENST00000359988.4:c.5089-159A>C (NRAP) MANE Select | ENSP00000353078.3:n.5089-159A>C | |
| ENST00000351270.3:c.*869T>G (HABP2) | ENSP00000277903.4:n.*869T>G | |
| ENST00000359988.3:c.5089-159A>C (NRAP) | ENSP00000353078.2:n.5089-159A>C | |
| ENST00000360478.7:c.4984-159A>C (NRAP) | ENSP00000353666.3:n.4984-159A>C | |
| ENST00000369358.8:c.5089-156A>C (NRAP) | ENSP00000358365.4:n.5089-156A>C | |
| ENST00000369360.7:c.5008-159A>C (NRAP) | ENSP00000358367.3:n.5008-159A>C | |
| ENST00000542051.5:c.*869T>G (HABP2) | ENSP00000443283.1:n.*869T>G | |
| NM_001177660.1:c.*869T>G (HABP2) | NP_001171131.1:n.*869T>G | |
| NM_001261463.1:c.5089-156A>C (NRAP) | NP_001248392.1:n.5089-156A>C | |
| NM_004132.3:c.*869T>G (HABP2) | NP_004123.1:n.*869T>G | |
| NM_006175.4:c.4984-159A>C (NRAP) | NP_006166.3:n.4984-159A>C | |
| NM_198060.3:c.5089-159A>C (NRAP) | NP_932326.2:n.5089-159A>C | |
| XM_005269864.1:c.4984-156A>C (NRAP) | XP_005269921.1:n.4984-156A>C | |
| XM_005269865.1:c.4981-156A>C (NRAP) | XP_005269922.1:n.4981-156A>C | |
| XM_005269867.1:c.4777-156A>C (NRAP) | XP_005269924.1:n.4777-156A>C | |
| XM_006717870.1:c.4984-156A>C (NRAP) | XP_006717933.1:n.4984-156A>C | |
| XM_011539832.1:c.4981-156A>C (NRAP) | XP_011538134.1:n.4981-156A>C | |
| NM_001177660.2:c.*869T>G (HABP2) | NP_001171131.1:n.*869T>G | |
| NM_001322945.1:c.4981-159A>C (NRAP) | NP_001309874.1:n.4981-159A>C | |
| NM_004132.4:c.*869T>G (HABP2) | NP_004123.1:n.*869T>G | |
| XM_005269864.2:c.4984-156A>C (NRAP) | XP_005269921.1:n.4984-156A>C | |
| XM_005269865.2:c.4981-156A>C (NRAP) | XP_005269922.1:n.4981-156A>C | |
| XM_005269867.2:c.4777-156A>C (NRAP) | XP_005269924.1:n.4777-156A>C | |
| XM_006717870.2:c.4984-156A>C (NRAP) | XP_006717933.1:n.4984-156A>C | |
| XM_011539832.2:c.4981-156A>C (NRAP) | XP_011538134.1:n.4981-156A>C | |
| XM_024448029.1:c.4777-159A>C (NRAP) | XP_024303797.1:n.4777-159A>C | |
| NM_004132.5:c.*869T>G (HABP2) MANE Select | NP_004123.1:n.*869T>G | |
| NM_001322945.2:c.4981-159A>C (NRAP) | NP_001309874.1:n.4981-159A>C | |
| NM_198060.4:c.5089-159A>C (NRAP) MANE Select | NP_932326.2:n.5089-159A>C | |
| NM_001177660.3:c.*869T>G (HABP2) | NP_001171131.1:n.*869T>G | |
| NM_001261463.2:c.5089-156A>C (NRAP) | NP_001248392.1:n.5089-156A>C | |
| NM_006175.5:c.4984-159A>C (NRAP) | NP_006166.3:n.4984-159A>C |