Linked Data
dbSNP Id:
rs1220006790
gnomAD v2:
21-33039640-T-C
gnomAD v3:
21-31667327-T-C
gnomAD v4:
21-31667327-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.31667327T>C , CM000683.2:g.31667327T>C | GRCh38 |
| NC_000021.8:g.33039640T>C , CM000683.1:g.33039640T>C | GRCh37 |
| NC_000021.7:g.31961511T>C | NCBI36 |
| NG_008689.1:g.12706T>C , LRG_652:g.12706T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270142.11:c.309T>C MANE Select | ENSP00000270142.7:p.Ser103= | |
| ENST00000270142.10:c.309T>C | ENSP00000270142.6:p.Ser103= | |
| ENST00000389995.4:c.252T>C | ENSP00000374645.4:p.Ser84= | |
| ENST00000470944.1:n.1237T>C | ||
| ENST00000476106.5:n.572T>C | ||
| NM_000454.4:c.309T>C , LRG_652t1:c.309T>C | NP_000445.1:p.Ser103= | |
| NM_000454.5:c.309T>C MANE Select | NP_000445.1:p.Ser103= |