Linked Data
dbSNP Id:
rs368716066
ExAC:
9:38396688 A / C
gnomAD v2:
9-38396688-A-C
gnomAD v3:
9-38396691-A-C
gnomAD v4:
9-38396691-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.38396691A>C , CM000671.2:g.38396691A>C | GRCh38 |
| NC_000009.11:g.38396688A>C , CM000671.1:g.38396688A>C | GRCh37 |
| NC_000009.10:g.38386688A>C | NCBI36 |
| NG_012253.1:g.8987A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377698.4:c.943A>C MANE Select | ENSP00000366927.3:p.Met315Leu | |
| ENST00000377698.3:c.943A>C | ENSP00000366927.3:p.Met315Leu | |
| NM_000692.4:c.943A>C | NP_000683.3:p.Met315Leu | |
| XM_011517802.1:c.943A>C | XP_011516104.1:p.Met315Leu | |
| XM_011517802.2:c.943A>C | XP_011516104.1:p.Met315Leu | |
| NM_000692.5:c.943A>C MANE Select | NP_000683.3:p.Met315Leu |