Linked Data
ClinVar Variation Id:
3012860
ClinVar RCV Id:
RCV003877971
dbSNP Id:
rs763339825
gnomAD v4:
10-49620490-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49620490G>C , CM000672.2:g.49620490G>C | GRCh38 |
| NC_000010.10:g.50828536G>C , CM000672.1:g.50828536G>C | GRCh37 |
| NC_000010.9:g.50498542G>C | NCBI36 |
| NG_011797.1:g.16396G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337653.7:c.580-5G>C MANE Select | ENSP00000337103.2:n.580-5G>C | |
| ENST00000337653.6:c.580-5G>C | ENSP00000337103.2:n.580-5G>C | |
| ENST00000339797.5:c.226-5G>C | ENSP00000343486.1:n.226-5G>C | |
| ENST00000351556.7:c.226-5G>C | ENSP00000345878.3:n.226-5G>C | |
| ENST00000395559.6:c.226-5G>C | ENSP00000378926.2:n.226-5G>C | |
| ENST00000395562.2:c.334-5G>C | ENSP00000378929.2:n.334-5G>C | |
| ENST00000460699.5:n.561-5G>C | ||
| ENST00000466590.6:c.*311-5G>C | ENSP00000473443.1:n.*311-5G>C | |
| NM_001142929.1:c.226-5G>C | NP_001136401.1:n.226-5G>C | |
| NM_001142933.1:c.334-5G>C | NP_001136405.1:n.334-5G>C | |
| NM_001142934.1:c.226-5G>C | NP_001136406.1:n.226-5G>C | |
| NM_020549.4:c.580-5G>C | NP_065574.3:n.580-5G>C | |
| NM_020984.3:c.226-5G>C | NP_066264.3:n.226-5G>C | |
| NM_020985.3:c.226-5G>C | NP_066265.3:n.226-5G>C | |
| NM_020986.3:c.226-5G>C | NP_066266.3:n.226-5G>C | |
| NM_001142929.2:c.226-5G>C | NP_001136401.2:n.226-5G>C | |
| NM_001142933.2:c.334-5G>C | NP_001136405.2:n.334-5G>C | |
| NM_001142934.2:c.226-5G>C | NP_001136406.2:n.226-5G>C | |
| NM_020549.5:c.580-5G>C MANE Select | NP_065574.4:n.580-5G>C | |
| NM_020984.4:c.226-5G>C | NP_066264.4:n.226-5G>C | |
| NM_020985.4:c.226-5G>C | NP_066265.4:n.226-5G>C | |
| NM_020986.4:c.226-5G>C | NP_066266.4:n.226-5G>C |