Linked Data
dbSNP Id:
rs779466600
ExAC:
12:9268489 C / T
gnomAD v2:
12-9268489-C-T
gnomAD v4:
12-9115893-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.9115893C>T , CM000674.2:g.9115893C>T | GRCh38 |
| NC_000012.11:g.9268489C>T , CM000674.1:g.9268489C>T | GRCh37 |
| NC_000012.10:g.9159756C>T | NCBI36 |
| NG_011717.1:g.5070G>A | |
| NG_011717.2:g.5070G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318602.12:c.-44G>A (A2M) MANE Select | ENSP00000323929.8:n.-44G>A | |
| ENST00000318602.11:c.-44G>A (A2M) | ENSP00000323929.7:n.-44G>A | |
| ENST00000404455.2:c.-17-27G>A (A2M) | ENSP00000385710.2:n.-17-27G>A | |
| ENST00000467091.1:n.169G>A (A2M) | ||
| ENST00000497324.1:n.125G>A (A2M) | ||
| NM_000014.4:c.-44G>A (A2M) | NP_000005.2:n.-44G>A | |
| XM_006719056.2:c.-44G>A (A2M) | XP_006719119.1:n.-44G>A | |
| NM_000014.5:c.-44G>A (A2M) | NP_000005.2:n.-44G>A | |
| NM_001347423.1:c.-17-27G>A (A2M) | NP_001334352.1:n.-17-27G>A | |
| NM_001347424.1:c.-497G>A (A2M) | NP_001334353.1:n.-497G>A | |
| NM_001347425.1:c.-334G>A (A2M) | NP_001334354.1:n.-334G>A | |
| XM_006719056.3:c.-44G>A (A2M) | XP_006719119.1:n.-44G>A | |
| XM_017018683.1:c.*34-9481C>T (KLRG1) | XP_016874172.1:n.*34-9481C>T | |
| XM_017018684.1:c.*34-19193C>T (KLRG1) | XP_016874173.1:n.*34-19193C>T | |
| XM_017018685.1:c.*33+57727C>T (KLRG1) | XP_016874174.1:n.*33+57727C>T | |
| NM_000014.6:c.-44G>A (A2M) MANE Select | NP_000005.3:n.-44G>A | |
| NM_001347423.2:c.-17-27G>A (A2M) | NP_001334352.2:n.-17-27G>A | |
| NM_001347424.2:c.-497G>A (A2M) | NP_001334353.2:n.-497G>A | |
| NM_001347425.2:c.-334G>A (A2M) | NP_001334354.2:n.-334G>A |