Linked Data
dbSNP Id:
rs2661319
gnomAD v2:
1-163039777-T-C
gnomAD v3:
1-163069987-T-C
gnomAD v4:
1-163069987-T-C
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.163069987T>C , CM000663.2:g.163069987T>C | GRCh38 |
| NC_000001.10:g.163039777T>C , CM000663.1:g.163039777T>C | GRCh37 |
| NC_000001.9:g.161306401T>C | NCBI36 |
| NG_023312.1:g.6382T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367909.11:c.44+459T>C MANE Select | ENSP00000356885.6:n.44+459T>C | |
| ENST00000367908.8:c.44+459T>C | ENSP00000356884.4:n.44+459T>C | |
| ENST00000367909.10:c.44+459T>C | ENSP00000356885.6:n.44+459T>C | |
| ENST00000421743.6:c.335+459T>C | ENSP00000397181.2:n.335+459T>C | |
| ENST00000491263.1:n.166+459T>C | ||
| ENST00000527393.5:n.357+459T>C | ||
| ENST00000527809.5:c.-11+579T>C | ENSP00000433261.1:n.-11+579T>C | |
| ENST00000531057.5:c.44+459T>C | ENSP00000436106.1:n.44+459T>C | |
| NM_001102445.2:c.335+459T>C | NP_001095915.1:n.335+459T>C | |
| NM_001113381.1:c.44+459T>C | NP_001106852.1:n.44+459T>C | |
| NM_005613.5:c.44+459T>C | NP_005604.1:n.44+459T>C | |
| NM_001102445.3:c.335+459T>C | NP_001095915.1:n.335+459T>C | |
| NM_005613.6:c.44+459T>C MANE Select | NP_005604.1:n.44+459T>C |