Linked Data
ClinVar Variation Id:
3146264
ClinVar RCV Id:
RCV004439650
dbSNP Id:
rs754940338
ExAC:
12:9265125 T / A
gnomAD v2:
12-9265125-T-A
gnomAD v3:
12-9112529-T-A
gnomAD v4:
12-9112529-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.9112529T>A , CM000674.2:g.9112529T>A | GRCh38 |
| NC_000012.11:g.9265125T>A , CM000674.1:g.9265125T>A | GRCh37 |
| NC_000012.10:g.9156392T>A | NCBI36 |
| NG_011717.1:g.8434A>T | |
| NG_011717.2:g.8434A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318602.12:c.278A>T (A2M) MANE Select | ENSP00000323929.8:p.Lys93Met | |
| ENST00000318602.11:c.278A>T (A2M) | ENSP00000323929.7:p.Lys93Met | |
| ENST00000404455.2:c.278A>T (A2M) | ENSP00000385710.2:p.Lys93Met | |
| ENST00000539638.5:c.271-318A>T (A2M) | ENSP00000445717.1:n.271-318A>T | |
| NM_000014.4:c.278A>T (A2M) | NP_000005.2:p.Lys93Met | |
| XM_006719056.2:c.278A>T (A2M) | XP_006719119.1:p.Lys93Met | |
| NM_000014.5:c.278A>T (A2M) | NP_000005.2:p.Lys93Met | |
| NM_001347423.1:c.278A>T (A2M) | NP_001334352.1:p.Lys93Met | |
| NM_001347424.1:c.-23A>T (A2M) | NP_001334353.1:n.-23A>T | |
| NM_001347425.1:c.-20-318A>T (A2M) | NP_001334354.1:n.-20-318A>T | |
| XM_006719056.3:c.278A>T (A2M) | XP_006719119.1:p.Lys93Met | |
| XM_017018683.1:c.*34-12845T>A (KLRG1) | XP_016874172.1:n.*34-12845T>A | |
| XM_017018684.1:c.*34-22557T>A (KLRG1) | XP_016874173.1:n.*34-22557T>A | |
| XM_017018685.1:c.*33+54363T>A (KLRG1) | XP_016874174.1:n.*33+54363T>A | |
| NM_000014.6:c.278A>T (A2M) MANE Select | NP_000005.3:p.Lys93Met | |
| NM_001347423.2:c.278A>T (A2M) | NP_001334352.2:p.Lys93Met | |
| NM_001347424.2:c.-23A>T (A2M) | NP_001334353.2:n.-23A>T | |
| NM_001347425.2:c.-20-318A>T (A2M) | NP_001334354.2:n.-20-318A>T |