Linked Data
ClinVar Variation Id:
14259
dbSNP Id:
rs63750129
gnomAD v2:
17-44073978-A-C
gnomAD v4:
17-45996612-A-C
PubMed:
PMID:11117542
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.45996612A>C , CM000679.2:g.45996612A>C | GRCh38 |
| NC_000017.10:g.44073978A>C , CM000679.1:g.44073978A>C | GRCh37 |
| NC_000017.9:g.41429815A>C | NCBI36 |
| NG_007398.1:g.107192A>C | |
| NG_007398.2:g.107150A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000420682.7:c.683A>C | ENSP00000413056.2:p.Lys228Thr | |
| ENST00000703922.1:c.683A>C | ENSP00000515557.1:p.Lys228Thr | |
| ENST00000703923.1:c.596A>C | ENSP00000515558.1:p.Lys199Thr | |
| ENST00000703924.1:c.683A>C | ENSP00000515559.1:p.Lys228Thr | |
| ENST00000703978.1:c.770A>C | ENSP00000515600.1:p.Lys257Thr | |
| ENST00000703979.1:n.634A>C | ||
| ENST00000703980.1:n.2A>C | ||
| ENST00000262410.10:c.1946A>C MANE Select | ENSP00000262410.6:p.Lys649Thr | |
| ENST00000344290.10:c.1748A>C | ENSP00000340820.6:p.Lys583Thr | |
| ENST00000351559.10:c.770A>C | ENSP00000303214.7:p.Lys257Thr | |
| ENST00000535772.6:c.683A>C | ENSP00000443028.2:p.Lys228Thr | |
| ENST00000680542.1:c.683A>C | ENSP00000505258.1:p.Lys228Thr | |
| ENST00000680674.1:c.596A>C | ENSP00000505478.1:p.Lys199Thr | |
| ENST00000262410.9:c.1721A>C | ENSP00000262410.5:p.Lys574Thr | |
| ENST00000334239.12:c.596A>C | ENSP00000334886.8:p.Lys199Thr | |
| ENST00000340799.9:c.683A>C | ENSP00000340438.5:p.Lys228Thr | |
| ENST00000344290.9:c.1775A>C | ENSP00000340820.5:p.Lys592Thr | |
| ENST00000351559.9:c.770A>C | ENSP00000303214.7:p.Lys257Thr | |
| ENST00000415613.6:c.1775A>C | ENSP00000410838.2:p.Lys592Thr | |
| ENST00000420682.6:c.683A>C | ENSP00000413056.2:p.Lys228Thr | |
| ENST00000431008.7:c.770A>C | ENSP00000389250.3:p.Lys257Thr | |
| ENST00000446361.7:c.596A>C | ENSP00000408975.3:p.Lys199Thr | |
| ENST00000535772.5:c.770A>C | ENSP00000443028.1:p.Lys257Thr | |
| ENST00000570299.5:n.724A>C | ||
| ENST00000571987.5:c.1721A>C | ENSP00000458742.1:p.Lys574Thr | |
| ENST00000574436.5:c.770A>C | ENSP00000460965.1:p.Lys257Thr | |
| ENST00000576518.1:n.6055A>C | ||
| NM_001123066.3:c.1775A>C | NP_001116538.2:p.Lys592Thr | |
| NM_001123067.3:c.683A>C | NP_001116539.1:p.Lys228Thr | |
| NM_001203251.1:c.683A>C | NP_001190180.1:p.Lys228Thr | |
| NM_001203252.1:c.770A>C | NP_001190181.1:p.Lys257Thr | |
| NM_005910.5:c.770A>C | NP_005901.2:p.Lys257Thr | |
| NM_016834.4:c.596A>C | NP_058518.1:p.Lys199Thr | |
| NM_016835.4:c.1721A>C | NP_058519.3:p.Lys574Thr | |
| NM_016841.4:c.596A>C | NP_058525.1:p.Lys199Thr | |
| XM_005257362.3:c.2033A>C | XP_005257419.1:p.Lys678Thr | |
| XM_005257364.3:c.1946A>C | XP_005257421.1:p.Lys649Thr | |
| XM_005257365.3:c.2033A>C | XP_005257422.1:p.Lys678Thr | |
| XM_005257366.2:c.1859A>C | XP_005257423.1:p.Lys620Thr | |
| XM_005257367.3:c.1835A>C | XP_005257424.1:p.Lys612Thr | |
| XM_005257368.3:c.1835A>C | XP_005257425.1:p.Lys612Thr | |
| XM_005257369.3:c.968A>C | XP_005257426.1:p.Lys323Thr | |
| XM_005257370.3:c.881A>C | XP_005257427.1:p.Lys294Thr | |
| XM_005257371.3:c.794A>C | XP_005257428.1:p.Lys265Thr | |
| XM_005257362.4:c.2033A>C | XP_005257419.1:p.Lys678Thr | |
| XM_005257364.4:c.1946A>C | XP_005257421.1:p.Lys649Thr | |
| XM_005257365.4:c.2033A>C | XP_005257422.1:p.Lys678Thr | |
| XM_005257366.3:c.1859A>C | XP_005257423.1:p.Lys620Thr | |
| XM_005257367.4:c.1835A>C | XP_005257424.1:p.Lys612Thr | |
| XM_005257368.4:c.1835A>C | XP_005257425.1:p.Lys612Thr | |
| XM_005257369.4:c.968A>C | XP_005257426.1:p.Lys323Thr | |
| XM_005257370.4:c.881A>C | XP_005257427.1:p.Lys294Thr | |
| XM_005257371.4:c.794A>C | XP_005257428.1:p.Lys265Thr | |
| NM_001203251.2:c.683A>C | NP_001190180.1:p.Lys228Thr | |
| NM_001377265.1:c.1946A>C MANE Select | NP_001364194.1:p.Lys649Thr | |
| NM_001377266.1:c.1748A>C | NP_001364195.1:p.Lys583Thr | |
| NM_001377267.1:c.683A>C | NP_001364196.1:p.Lys228Thr | |
| NM_001377268.1:c.596A>C | NP_001364197.1:p.Lys199Thr | |
| NM_016834.5:c.596A>C | NP_058518.1:p.Lys199Thr | |
| NM_016841.5:c.596A>C | NP_058525.1:p.Lys199Thr | |
| NR_165166.1:n.694A>C | ||
| NM_001123066.4:c.1775A>C | NP_001116538.2:p.Lys592Thr | |
| NM_001123067.4:c.683A>C | NP_001116539.1:p.Lys228Thr | |
| NM_001203252.2:c.770A>C | NP_001190181.1:p.Lys257Thr | |
| NM_005910.6:c.770A>C | NP_005901.2:p.Lys257Thr | |
| NM_016835.5:c.1721A>C | NP_058519.3:p.Lys574Thr |