Linked Data
dbSNP Id:
rs751889073
ExAC:
12:9232276 G / A
gnomAD v2:
12-9232276-G-A
gnomAD v4:
12-9079680-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.9079680G>A , CM000674.2:g.9079680G>A | GRCh38 |
| NC_000012.11:g.9232276G>A , CM000674.1:g.9232276G>A | GRCh37 |
| NC_000012.10:g.9123543G>A | NCBI36 |
| NG_011717.1:g.41283C>T | |
| NG_011717.2:g.41283C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318602.12:c.2990C>T (A2M) MANE Select | ENSP00000323929.8:p.Thr997Ile | |
| ENST00000318602.11:c.2990C>T (A2M) | ENSP00000323929.7:p.Thr997Ile | |
| ENST00000542567.1:n.345C>T (A2M) | ||
| ENST00000543436.2:n.451+10232C>T (A2M) | ||
| ENST00000545828.1:n.349-6959C>T (A2M) | ||
| NM_000014.4:c.2990C>T (A2M) | NP_000005.2:p.Thr997Ile | |
| XM_006719056.2:c.2990C>T (A2M) | XP_006719119.1:p.Thr997Ile | |
| NM_000014.5:c.2990C>T (A2M) | NP_000005.2:p.Thr997Ile | |
| NM_001347423.1:c.2990C>T (A2M) | NP_001334352.1:p.Thr997Ile | |
| NM_001347424.1:c.2690C>T (A2M) | NP_001334353.1:p.Thr897Ile | |
| NM_001347425.1:c.2540C>T (A2M) | NP_001334354.1:p.Thr847Ile | |
| XM_006719056.3:c.2990C>T (A2M) | XP_006719119.1:p.Thr997Ile | |
| XM_017018683.1:c.*33+21514G>A (KLRG1) | XP_016874172.1:n.*33+21514G>A | |
| XM_017018684.1:c.*33+21514G>A (KLRG1) | XP_016874173.1:n.*33+21514G>A | |
| XM_017018685.1:c.*33+21514G>A (KLRG1) | XP_016874174.1:n.*33+21514G>A | |
| NM_000014.6:c.2990C>T (A2M) MANE Select | NP_000005.3:p.Thr997Ile | |
| NM_001347423.2:c.2990C>T (A2M) | NP_001334352.2:p.Thr997Ile | |
| NM_001347424.2:c.2690C>T (A2M) | NP_001334353.2:p.Thr897Ile | |
| NM_001347425.2:c.2540C>T (A2M) | NP_001334354.2:p.Thr847Ile |