Linked Data
ClinVar Variation Id:
98231
dbSNP Id:
rs63750869
ExAC:
17:44096073 G / A
gnomAD v2:
17-44096073-G-A
gnomAD v3:
17-46018707-G-A
gnomAD v4:
17-46018707-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.46018707G>A , CM000679.2:g.46018707G>A | GRCh38 |
| NC_000017.10:g.44096073G>A , CM000679.1:g.44096073G>A | GRCh37 |
| NC_000017.9:g.41451920G>A | NCBI36 |
| NG_007398.1:g.129297G>A | |
| NG_007398.2:g.129245G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000420682.7:c.1000G>A | ENSP00000413056.2:p.Val334Ile | |
| ENST00000703922.1:c.1000G>A | ENSP00000515557.1:p.Val334Ile | |
| ENST00000703923.1:c.913G>A | ENSP00000515558.1:p.Val305Ile | |
| ENST00000703924.1:c.1000G>A | ENSP00000515559.1:p.Val334Ile | |
| ENST00000703978.1:c.1087G>A | ENSP00000515600.1:p.Val363Ile | |
| ENST00000703980.1:n.313G>A | ||
| ENST00000703981.1:n.271G>A | ||
| ENST00000703982.1:n.505G>A | ||
| ENST00000262410.10:c.2263G>A MANE Select | ENSP00000262410.6:p.Val755Ile | |
| ENST00000344290.10:c.1972G>A | ENSP00000340820.6:p.Val658Ile | |
| ENST00000351559.10:c.1087G>A | ENSP00000303214.7:p.Val363Ile | |
| ENST00000535772.6:c.907G>A | ENSP00000443028.2:p.Val303Ile | |
| ENST00000680542.1:c.1000G>A | ENSP00000505258.1:p.Val334Ile | |
| ENST00000680674.1:c.1036G>A | ENSP00000505478.1:p.Val346Ile | |
| ENST00000262410.9:c.2038G>A | ENSP00000262410.5:p.Val680Ile | |
| ENST00000334239.12:c.820G>A | ENSP00000334886.8:p.Val274Ile | |
| ENST00000340799.9:c.1000G>A | ENSP00000340438.5:p.Val334Ile | |
| ENST00000344290.9:c.2092G>A | ENSP00000340820.5:p.Val698Ile | |
| ENST00000351559.9:c.1087G>A | ENSP00000303214.7:p.Val363Ile | |
| ENST00000415613.6:c.2092G>A | ENSP00000410838.2:p.Val698Ile | |
| ENST00000420682.6:c.1000G>A | ENSP00000413056.2:p.Val334Ile | |
| ENST00000431008.7:c.994G>A | ENSP00000389250.3:p.Val332Ile | |
| ENST00000446361.7:c.913G>A | ENSP00000408975.3:p.Val305Ile | |
| ENST00000535772.5:c.994G>A | ENSP00000443028.1:p.Val332Ile | |
| ENST00000570299.5:n.866G>A | ||
| ENST00000571987.5:c.2038G>A | ENSP00000458742.1:p.Val680Ile | |
| ENST00000574436.5:c.1087G>A | ENSP00000460965.1:p.Val363Ile | |
| ENST00000576518.1:n.6279G>A | ||
| NM_001123066.3:c.2092G>A | NP_001116538.2:p.Val698Ile | |
| NM_001123067.3:c.1000G>A | NP_001116539.1:p.Val334Ile | |
| NM_001203251.1:c.907G>A | NP_001190180.1:p.Val303Ile | |
| NM_001203252.1:c.994G>A | NP_001190181.1:p.Val332Ile | |
| NM_005910.5:c.1087G>A | NP_005901.2:p.Val363Ile | |
| NM_016834.4:c.913G>A | NP_058518.1:p.Val305Ile | |
| NM_016835.4:c.2038G>A | NP_058519.3:p.Val680Ile | |
| NM_016841.4:c.820G>A | NP_058525.1:p.Val274Ile | |
| XM_005257362.3:c.2350G>A | XP_005257419.1:p.Val784Ile | |
| XM_005257364.3:c.2263G>A | XP_005257421.1:p.Val755Ile | |
| XM_005257365.3:c.2257G>A | XP_005257422.1:p.Val753Ile | |
| XM_005257366.2:c.2176G>A | XP_005257423.1:p.Val726Ile | |
| XM_005257367.3:c.2152G>A | XP_005257424.1:p.Val718Ile | |
| XM_005257368.3:c.2059G>A | XP_005257425.1:p.Val687Ile | |
| XM_005257369.3:c.1285G>A | XP_005257426.1:p.Val429Ile | |
| XM_005257370.3:c.1198G>A | XP_005257427.1:p.Val400Ile | |
| XM_005257371.3:c.1111G>A | XP_005257428.1:p.Val371Ile | |
| XM_005257362.4:c.2350G>A | XP_005257419.1:p.Val784Ile | |
| XM_005257364.4:c.2263G>A | XP_005257421.1:p.Val755Ile | |
| XM_005257365.4:c.2257G>A | XP_005257422.1:p.Val753Ile | |
| XM_005257366.3:c.2176G>A | XP_005257423.1:p.Val726Ile | |
| XM_005257367.4:c.2152G>A | XP_005257424.1:p.Val718Ile | |
| XM_005257368.4:c.2059G>A | XP_005257425.1:p.Val687Ile | |
| XM_005257369.4:c.1285G>A | XP_005257426.1:p.Val429Ile | |
| XM_005257370.4:c.1198G>A | XP_005257427.1:p.Val400Ile | |
| XM_005257371.4:c.1111G>A | XP_005257428.1:p.Val371Ile | |
| NM_001203251.2:c.907G>A | NP_001190180.1:p.Val303Ile | |
| NM_001377265.1:c.2263G>A MANE Select | NP_001364194.1:p.Val755Ile | |
| NM_001377266.1:c.1972G>A | NP_001364195.1:p.Val658Ile | |
| NM_001377267.1:c.771+4429G>A | NP_001364196.1:n.771+4429G>A | |
| NM_001377268.1:c.820G>A | NP_001364197.1:p.Val274Ile | |
| NM_016834.5:c.913G>A | NP_058518.1:p.Val305Ile | |
| NM_016841.5:c.820G>A | NP_058525.1:p.Val274Ile | |
| NR_165166.1:n.918G>A | ||
| NM_001123066.4:c.2092G>A | NP_001116538.2:p.Val698Ile | |
| NM_001123067.4:c.1000G>A | NP_001116539.1:p.Val334Ile | |
| NM_001203252.2:c.994G>A | NP_001190181.1:p.Val332Ile | |
| NM_005910.6:c.1087G>A | NP_005901.2:p.Val363Ile | |
| NM_016835.5:c.2038G>A | NP_058519.3:p.Val680Ile |