Linked Data
dbSNP Id:
rs749435979
ExAC:
17:48051304 G / A
gnomAD v2:
17-48051304-G-A
gnomAD v4:
17-49973940-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.49973940G>A , CM000679.2:g.49973940G>A | GRCh38 |
| NC_000017.10:g.48051304G>A , CM000679.1:g.48051304G>A | GRCh37 |
| NC_000017.9:g.45406303G>A | NCBI36 |
| NG_030592.1:g.9743G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706528.1:n.1601G>A | ||
| ENST00000240306.5:c.720G>A MANE Select | ENSP00000240306.3:p.Met240Ile | |
| ENST00000240306.4:c.720G>A | ENSP00000240306.3:p.Met240Ile | |
| ENST00000411890.3:c.504G>A | ENSP00000410622.2:p.Met168Ile | |
| ENST00000611342.1:c.*590G>A | ENSP00000480366.1:n.*590G>A | |
| NM_001934.3:c.504G>A | NP_001925.2:p.Met168Ile | |
| NM_138281.2:c.720G>A | NP_612138.1:p.Met240Ile | |
| XM_011524459.1:c.504G>A | XP_011522761.1:p.Met168Ile | |
| XM_017024291.1:c.504G>A | XP_016879780.1:p.Met168Ile | |
| NM_138281.3:c.720G>A MANE Select | NP_612138.1:p.Met240Ile | |
| NM_001934.4:c.504G>A | NP_001925.2:p.Met168Ile |