Linked Data
dbSNP Id:
rs774723248
ExAC:
19:51411956 C / A
gnomAD v2:
19-51411956-C-A
gnomAD v4:
19-50908700-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50908700C>A , CM000681.2:g.50908700C>A | GRCh38 |
| NC_000019.9:g.51411956C>A , CM000681.1:g.51411956C>A | GRCh37 |
| NC_000019.8:g.56103768C>A | NCBI36 |
| NG_012154.2:g.7039G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324041.6:c.354G>T MANE Select | ENSP00000326159.1:p.Met118Ile | |
| ENST00000324041.5:c.354G>T | ENSP00000326159.1:p.Met118Ile | |
| ENST00000431178.2:c.207G>T | ENSP00000399448.2:p.Met69Ile | |
| ENST00000593885.1:c.69G>T | ENSP00000469769.1:p.Met23Ile | |
| ENST00000596876.1:n.273G>T | ||
| ENST00000598305.5:c.69G>T | ENSP00000469963.1:p.Met23Ile | |
| ENST00000599865.5:n.207G>T | ||
| ENST00000602148.1:c.366G>T | ENSP00000472091.1:n.366G>T | |
| NM_001302961.1:c.69G>T | NP_001289890.1:p.Met23Ile | |
| NM_004917.4:c.354G>T | NP_004908.4:p.Met118Ile | |
| NR_126566.1:n.347G>T | ||
| XM_005259441.3:c.69G>T | XP_005259498.2:p.Met23Ile | |
| XM_011527545.1:c.354G>T | XP_011525847.1:p.Met118Ile | |
| XM_011527546.1:c.354G>T | XP_011525848.1:p.Met118Ile | |
| XM_011527547.1:c.207G>T | XP_011525849.1:p.Met69Ile | |
| XM_005259441.4:c.69G>T | XP_005259498.2:p.Met23Ile | |
| XM_011527545.3:c.354G>T | XP_011525847.1:p.Met118Ile | |
| XM_011527546.2:c.354G>T | XP_011525848.1:p.Met118Ile | |
| NM_001302961.2:c.69G>T | NP_001289890.1:p.Met23Ile | |
| NR_126566.2:n.347G>T | ||
| NM_004917.5:c.354G>T MANE Select | NP_004908.4:p.Met118Ile |