Linked Data
dbSNP Id:
rs117767867
ExAC:
17:6946330 C / T
gnomAD v2:
17-6946330-C-T
gnomAD v3:
17-7043011-C-T
gnomAD v4:
17-7043011-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7043011C>T , CM000679.2:g.7043011C>T | GRCh38 |
| NC_000017.10:g.6946330C>T , CM000679.1:g.6946330C>T | GRCh37 |
| NC_000017.9:g.6887054C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000574600.3:c.265G>A MANE Select | ENSP00000460927.2:p.Val89Ile | |
| ENST00000662352.3:c.265G>A | ENSP00000499634.1:p.Val89Ile | |
| ENST00000673828.2:c.265G>A | ENSP00000501313.1:p.Val89Ile | |
| ENST00000308009.5:c.337G>A | ENSP00000310490.1:p.Val113Ile | |
| ENST00000447225.1:c.265G>A | ENSP00000394449.1:p.Val89Ile | |
| ENST00000573338.1:n.596G>A | ||
| ENST00000574600.1:c.265G>A | ENSP00000460927.1:p.Val89Ile | |
| NM_153357.1:c.337G>A | NP_699188.1:p.Val113Ile | |
| XM_005256488.2:c.622G>A | XP_005256545.2:p.Val208Ile | |
| XM_011523696.1:c.622G>A | XP_011521998.1:p.Val208Ile | |
| XM_005256488.4:c.622G>A | XP_005256545.2:p.Val208Ile | |
| XM_017024281.1:c.622G>A | XP_016879770.1:p.Val208Ile | |
| XM_017024282.2:c.622G>A | XP_016879771.1:p.Val208Ile | |
| NM_153357.2:c.265G>A | NP_699188.2:p.Val89Ile | |
| NM_001370549.1:c.265G>A MANE Select | NP_001357478.1:p.Val89Ile | |
| NM_001370553.1:c.265G>A | NP_001357482.1:p.Val89Ile | |
| NM_153357.3:c.265G>A | NP_699188.2:p.Val89Ile |