Linked Data
dbSNP Id:
rs1471182892
gnomAD v2:
17-65124901-T-G
gnomAD v3:
17-67128785-T-G
gnomAD v4:
17-67128785-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.67128785T>G , CM000679.2:g.67128785T>G | GRCh38 |
| NC_000017.10:g.65124901T>G , CM000679.1:g.65124901T>G | GRCh37 |
| NC_000017.9:g.62555363T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358691.10:c.3253A>C MANE Select | ENSP00000351524.5:p.Ile1085Leu | |
| ENST00000358691.9:c.3253A>C | ENSP00000351524.5:p.Ile1085Leu | |
| ENST00000579953.5:c.3256A>C | ENSP00000463727.1:p.Ile1086Leu | |
| ENST00000580168.5:c.3256A>C | ENSP00000464512.1:p.Ile1086Leu | |
| NM_014877.3:c.3253A>C | NP_055692.2:p.Ile1085Leu | |
| XM_005257888.3:c.3334A>C | XP_005257945.1:p.Ile1112Leu | |
| XM_005257889.3:c.3256A>C | XP_005257946.1:p.Ile1086Leu | |
| XM_005257890.3:c.3232A>C | XP_005257947.1:p.Ile1078Leu | |
| XM_006722214.2:c.3337A>C | XP_006722277.1:p.Ile1113Leu | |
| XM_006722215.2:c.2632A>C | XP_006722278.1:p.Ile878Leu | |
| XM_006722216.2:c.2161A>C | XP_006722279.1:p.Ile721Leu | |
| XM_011525544.1:c.3337A>C | XP_011523846.1:p.Ile1113Leu | |
| XM_011525545.1:c.3337A>C | XP_011523847.1:p.Ile1113Leu | |
| XR_934629.1:n.3328A>C | ||
| NM_001330447.1:c.3256A>C | NP_001317376.1:p.Ile1086Leu | |
| XM_005257888.5:c.3334A>C | XP_005257945.1:p.Ile1112Leu | |
| XM_006722214.4:c.3337A>C | XP_006722277.1:p.Ile1113Leu | |
| XM_006722215.3:c.2632A>C | XP_006722278.1:p.Ile878Leu | |
| XM_006722216.3:c.2161A>C | XP_006722279.1:p.Ile721Leu | |
| XM_011525544.2:c.3337A>C | XP_011523846.1:p.Ile1113Leu | |
| XM_017025477.2:c.2548A>C | XP_016880966.1:p.Ile850Leu | |
| XM_017025478.1:c.2080A>C | XP_016880967.1:p.Ile694Leu | |
| XR_001752712.2:n.3428A>C | ||
| XR_001752713.2:n.3280A>C | ||
| XR_001752714.2:n.3196A>C | ||
| NM_014877.4:c.3253A>C MANE Select | NP_055692.3:p.Ile1085Leu | |
| NM_001330447.2:c.3256A>C | NP_001317376.2:p.Ile1086Leu |