Linked Data
ClinVar Variation Id:
450265
ClinVar RCV Id:
RCV000521248
dbSNP Id:
rs1467385866
gnomAD v2:
6-49426885-T-C
gnomAD v3:
6-49459172-T-C
gnomAD v4:
6-49459172-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49459172T>C , CM000668.2:g.49459172T>C | GRCh38 |
| NC_000006.11:g.49426885T>C , CM000668.1:g.49426885T>C | GRCh37 |
| NC_000006.10:g.49534844T>C | NCBI36 |
| NG_007100.1:g.8968A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274813.4:c.295A>G MANE Select | ENSP00000274813.3:p.Met99Val | |
| ENST00000274813.3:c.295A>G | ENSP00000274813.3:p.Met99Val | |
| NM_000255.3:c.295A>G | NP_000246.2:p.Met99Val | |
| XM_005249143.2:c.295A>G | XP_005249200.1:p.Met99Val | |
| XM_005249143.3:c.295A>G | XP_005249200.1:p.Met99Val | |
| NM_000255.4:c.295A>G MANE Select | NP_000246.2:p.Met99Val |