Linked Data
dbSNP Id:
rs753259600
ExAC:
19:41518232 A / G
gnomAD v2:
19-41518232-A-G
gnomAD v4:
19-41012327-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41012327A>G , CM000681.2:g.41012327A>G | GRCh38 |
| NC_000019.9:g.41518232A>G , CM000681.1:g.41518232A>G | GRCh37 |
| NC_000019.8:g.46210072A>G | NCBI36 |
| NG_007929.1:g.26029A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000324071.10:c.994A>G MANE Select | ENSP00000324648.2:p.Ile332Val | |
| ENST00000598834.2:c.1018A>G | ||
| ENST00000324071.8:c.994A>G | ENSP00000324648.2:p.Ile332Val | |
| ENST00000593831.1:c.286A>G | ENSP00000470582.1:p.Ile96Val | |
| ENST00000597612.1:n.489A>G | ||
| NM_000767.4:c.994A>G | NP_000758.1:p.Ile332Val | |
| XM_005258569.3:c.994A>G | XP_005258626.1:p.Ile332Val | |
| XM_006723050.2:c.994A>G | XP_006723113.1:p.Ile332Val | |
| XM_011526546.1:c.994A>G | XP_011524848.1:p.Ile332Val | |
| XM_011526547.1:c.994A>G | XP_011524849.1:p.Ile332Val | |
| XM_011526548.1:c.514A>G | XP_011524850.1:p.Ile172Val | |
| XM_011526549.1:c.403A>G | XP_011524851.1:p.Ile135Val | |
| XM_011526550.1:c.394A>G | XP_011524852.1:p.Ile132Val | |
| NM_000767.5:c.994A>G MANE Select | NP_000758.1:p.Ile332Val |