Linked Data
ClinVar Variation Id:
2738449
ClinVar RCV Id:
RCV003523443
dbSNP Id:
rs1261828944
gnomAD v2:
2-189864086-C-A
gnomAD v4:
2-188999360-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.188999360C>A , CM000664.2:g.188999360C>A | GRCh38 |
| NC_000002.11:g.189864086C>A , CM000664.1:g.189864086C>A | GRCh37 |
| NC_000002.10:g.189572331C>A | NCBI36 |
| NG_007404.1:g.29988C>A , LRG_3:g.29988C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.1999C>A | ENSP00000415346.2:p.Pro667Thr | |
| ENST00000304636.9:c.2098C>A MANE Select | ENSP00000304408.4:p.Pro700Thr | |
| ENST00000304636.7:c.2098C>A | ENSP00000304408.3:p.Pro700Thr | |
| ENST00000317840.9:c.2098C>A | ENSP00000315243.6:p.Pro700Thr | |
| NM_000090.3:c.2098C>A , LRG_3t1:c.2098C>A | NP_000081.1:p.Pro700Thr | |
| NM_000090.4:c.2098C>A MANE Select | NP_000081.2:p.Pro700Thr |