Linked Data
dbSNP Id:
rs1469622
gnomAD v2:
2-137875875-T-C
gnomAD v3:
2-137118305-T-C
gnomAD v4:
2-137118305-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.137118305T>C , CM000664.2:g.137118305T>C | GRCh38 |
| NC_000002.11:g.137875875T>C , CM000664.1:g.137875875T>C | GRCh37 |
| NC_000002.10:g.137592345T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000409968.6:c.1369+3012T>C MANE Select | ENSP00000387145.1:n.1369+3012T>C | |
| ENST00000272643.7:c.1369+3012T>C | ENSP00000272643.4:n.1369+3012T>C | |
| ENST00000409968.5:c.1369+3012T>C | ENSP00000387145.1:n.1369+3012T>C | |
| ENST00000413152.3:c.1276+3012T>C | ENSP00000413841.3:n.1276+3012T>C | |
| NM_001080427.1:c.1276+3012T>C | NP_001073896.1:n.1276+3012T>C | |
| NM_001316349.1:c.1369+3012T>C | NP_001303278.1:n.1369+3012T>C | |
| NM_001316349.2:c.1369+3012T>C MANE Select | NP_001303278.1:n.1369+3012T>C |