Linked Data
dbSNP Id:
rs62527607
gnomAD v2:
8-104153549-G-T
gnomAD v3:
8-103141321-G-T
gnomAD v4:
8-103141321-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.103141321G>T , CM000670.2:g.103141321G>T | GRCh38 |
| NC_000008.10:g.104153549G>T , CM000670.1:g.104153549G>T | GRCh37 |
| NC_000008.9:g.104222725G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000309982.10:c.160+264G>T (BAALC) MANE Select | ENSP00000312457.5:n.160+264G>T | |
| ENST00000297574.6:c.160+264G>T (BAALC) | ENSP00000297574.6:n.160+264G>T | |
| ENST00000306391.10:c.160+264G>T (BAALC) | ENSP00000302559.6:n.160+264G>T | |
| ENST00000309982.9:c.160+264G>T (BAALC) | ENSP00000312457.5:n.160+264G>T | |
| ENST00000330955.5:c.160+264G>T (BAALC) | ENSP00000331579.5:n.160+264G>T | |
| ENST00000438105.2:c.160+264G>T (BAALC) | ENSP00000395024.2:n.160+264G>T | |
| NM_001024372.1:c.160+264G>T (BAALC) | NP_001019543.1:n.160+264G>T | |
| NM_024812.2:c.160+264G>T (BAALC) | NP_079088.1:n.160+264G>T | |
| NR_027071.1:n.22C>A (BAALC-AS2) | ||
| NM_001364874.1:c.160+264G>T (BAALC) | NP_001351803.1:n.160+264G>T | |
| XR_001745601.2:n.310+264G>T (BAALC) | ||
| NM_024812.3:c.160+264G>T (BAALC) MANE Select | NP_079088.1:n.160+264G>T | |
| NM_001024372.2:c.160+264G>T (BAALC) | NP_001019543.1:n.160+264G>T |