Linked Data
dbSNP Id:
rs2274158
ExAC:
9:117166206 G / C
gnomAD v2:
9-117166206-G-C
gnomAD v4:
9-114403926-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.114403926G>C , CM000671.2:g.114403926G>C | GRCh38 |
| NC_000009.11:g.117166206G>C , CM000671.1:g.117166206G>C | GRCh37 |
| NC_000009.10:g.116206027G>C | NCBI36 |
| NG_016700.1:g.106531C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000699485.1:c.732C>G | ENSP00000514396.1:p.Asn244Lys | |
| ENST00000362057.4:c.2388C>G MANE Select | ENSP00000354623.3:p.Asn796Lys | |
| ENST00000674036.8:c.1361C>G | ||
| ENST00000674048.1:n.2269C>G | ||
| ENST00000265134.10:c.1239C>G | ENSP00000265134.6:p.Asn413Lys | |
| ENST00000362057.3:c.2388C>G | ENSP00000354623.3:p.Asn796Lys | |
| ENST00000374059.7:c.1335C>G | ENSP00000363172.3:p.Asn445Lys | |
| NM_001083885.2:c.1239C>G | NP_001077354.2:p.Asn413Lys | |
| NM_001173425.1:c.2385C>G | NP_001166896.1:p.Asn795Lys | |
| NM_015404.3:c.2388C>G | NP_056219.3:p.Asn796Lys | |
| XM_005251897.3:c.1725C>G | XP_005251954.2:p.Asn575Lys | |
| XM_011518484.1:c.2421C>G | XP_011516786.1:p.Asn807Lys | |
| XM_011518485.1:c.2421C>G | XP_011516787.1:p.Asn807Lys | |
| XM_011518486.1:c.2418C>G | XP_011516788.1:p.Asn806Lys | |
| XM_011518487.1:c.2295C>G | XP_011516789.1:p.Asn765Lys | |
| XM_011518488.1:c.2178C>G | XP_011516790.1:p.Asn726Lys | |
| XM_011518495.1:c.1098C>G | XP_011516797.1:p.Asn366Lys | |
| XR_929747.1:n.3325C>G | ||
| XR_929748.1:n.3223C>G | ||
| NM_001346890.1:c.1335C>G | NP_001333819.1:p.Asn445Lys | |
| XM_011518486.2:c.2418C>G | XP_011516788.1:p.Asn806Lys | |
| XM_011518487.2:c.2295C>G | XP_011516789.1:p.Asn765Lys | |
| XM_011518488.2:c.2178C>G | XP_011516790.1:p.Asn726Lys | |
| XR_929747.2:n.2636C>G | ||
| XR_929748.2:n.2534C>G | ||
| NM_015404.4:c.2388C>G MANE Select | NP_056219.3:p.Asn796Lys | |
| NM_001173425.2:c.2385C>G | NP_001166896.1:p.Asn795Lys | |
| NM_001083885.3:c.1239C>G | NP_001077354.2:p.Asn413Lys |