Linked Data
dbSNP Id:
rs1215170957
gnomAD v2:
19-6701554-G-A
gnomAD v3:
19-6701543-G-A
gnomAD v4:
19-6701543-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6701543G>A , CM000681.2:g.6701543G>A | GRCh38 |
| NC_000019.9:g.6701554G>A , CM000681.1:g.6701554G>A | GRCh37 |
| NC_000019.8:g.6652554G>A | NCBI36 |
| NG_009557.1:g.24109C>T , LRG_27:g.24109C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695651.1:n.788+584C>T | ||
| ENST00000695652.1:c.2317+584C>T | ENSP00000512083.1:n.2317+584C>T | |
| ENST00000695653.1:c.349+584C>T | ENSP00000512084.1:n.349+584C>T | |
| ENST00000695654.1:c.1564+584C>T | ENSP00000512085.1:n.1564+584C>T | |
| ENST00000695655.1:c.1381+584C>T | ENSP00000512086.1:n.1381+584C>T | |
| ENST00000695692.1:n.1804+584C>T | ||
| ENST00000245907.11:c.2440+584C>T MANE Select | ENSP00000245907.4:n.2440+584C>T | |
| ENST00000245907.10:c.2440+584C>T | ENSP00000245907.4:n.2440+584C>T | |
| ENST00000602053.1:n.488+584C>T | ||
| NM_000064.3:c.2440+584C>T | NP_000055.2:n.2440+584C>T | |
| NM_000064.4:c.2440+584C>T MANE Select | NP_000055.2:n.2440+584C>T |