Linked Data
ClinVar Variation Id:
98202
dbSNP Id:
rs2258689
ExAC:
17:44067382 T / C
gnomAD v2:
17-44067382-T-C
gnomAD v3:
17-45990016-T-C
gnomAD v4:
17-45990016-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.45990016T>C , CM000679.2:g.45990016T>C | GRCh38 |
| NC_000017.10:g.44067382T>C , CM000679.1:g.44067382T>C | GRCh37 |
| NG_007398.2:g.100554T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000420682.7:c.343-1444T>C | ENSP00000413056.2:n.343-1444T>C | |
| ENST00000703922.1:c.343-1444T>C | ENSP00000515557.1:n.343-1444T>C | |
| ENST00000703923.1:c.256-1444T>C | ENSP00000515558.1:n.256-1444T>C | |
| ENST00000703924.1:c.343-1444T>C | ENSP00000515559.1:n.343-1444T>C | |
| ENST00000703977.1:n.435T>C | ||
| ENST00000703978.1:c.430-1444T>C | ENSP00000515600.1:n.430-1444T>C | |
| ENST00000703979.1:n.294-1444T>C | ||
| ENST00000262410.10:c.1546T>C MANE Select | ENSP00000262410.6:p.Tyr516His | |
| ENST00000344290.10:c.1408-1444T>C | ENSP00000340820.6:n.1408-1444T>C | |
| ENST00000351559.10:c.430-1444T>C | ENSP00000303214.7:n.430-1444T>C | |
| ENST00000535772.6:c.343-1444T>C | ENSP00000443028.2:n.343-1444T>C | |
| ENST00000680542.1:c.343-1444T>C | ENSP00000505258.1:n.343-1444T>C | |
| ENST00000680674.1:c.256-1444T>C | ENSP00000505478.1:n.256-1444T>C | |
| ENST00000262410.9:c.1321T>C | ENSP00000262410.5:p.Tyr441His | |
| ENST00000334239.12:c.256-1444T>C | ENSP00000334886.8:n.256-1444T>C | |
| ENST00000340799.9:c.343-1444T>C | ENSP00000340438.5:n.343-1444T>C | |
| ENST00000344290.9:c.1321T>C | ENSP00000340820.5:p.Tyr441His | |
| ENST00000351559.9:c.430-1444T>C | ENSP00000303214.7:n.430-1444T>C | |
| ENST00000415613.6:c.1321T>C | ENSP00000410838.2:p.Tyr441His | |
| ENST00000420682.6:c.343-1444T>C | ENSP00000413056.2:n.343-1444T>C | |
| ENST00000431008.7:c.430-1444T>C | ENSP00000389250.3:n.430-1444T>C | |
| ENST00000446361.7:c.256-1444T>C | ENSP00000408975.3:n.256-1444T>C | |
| ENST00000535772.5:c.430-1444T>C | ENSP00000443028.1:n.430-1444T>C | |
| ENST00000570299.5:n.384-1444T>C | ||
| ENST00000571987.5:c.1321T>C | ENSP00000458742.1:p.Tyr441His | |
| ENST00000574436.5:c.430-1444T>C | ENSP00000460965.1:n.430-1444T>C | |
| ENST00000576518.1:n.5715-1444T>C | ||
| NM_001123066.3:c.1321T>C | NP_001116538.2:p.Tyr441His | |
| NM_001123067.3:c.343-1444T>C | NP_001116539.1:n.343-1444T>C | |
| NM_001203251.1:c.343-1444T>C | NP_001190180.1:n.343-1444T>C | |
| NM_001203252.1:c.430-1444T>C | NP_001190181.1:n.430-1444T>C | |
| NM_005910.5:c.430-1444T>C | NP_005901.2:n.430-1444T>C | |
| NM_016834.4:c.256-1444T>C | NP_058518.1:n.256-1444T>C | |
| NM_016835.4:c.1321T>C | NP_058519.3:p.Tyr441His | |
| NM_016841.4:c.256-1444T>C | NP_058525.1:n.256-1444T>C | |
| XM_005257362.3:c.1633T>C | XP_005257419.1:p.Tyr545His | |
| XM_005257364.3:c.1546T>C | XP_005257421.1:p.Tyr516His | |
| XM_005257365.3:c.1633T>C | XP_005257422.1:p.Tyr545His | |
| XM_005257366.2:c.1459T>C | XP_005257423.1:p.Tyr487His | |
| XM_005257367.3:c.1495-1444T>C | XP_005257424.1:n.1495-1444T>C | |
| XM_005257368.3:c.1495-1444T>C | XP_005257425.1:n.1495-1444T>C | |
| XM_005257369.3:c.568T>C | XP_005257426.1:p.Tyr190His | |
| XM_005257370.3:c.481T>C | XP_005257427.1:p.Tyr161His | |
| XM_005257371.3:c.394T>C | XP_005257428.1:p.Tyr132His | |
| XM_005257362.4:c.1633T>C | XP_005257419.1:p.Tyr545His | |
| XM_005257364.4:c.1546T>C | XP_005257421.1:p.Tyr516His | |
| XM_005257365.4:c.1633T>C | XP_005257422.1:p.Tyr545His | |
| XM_005257366.3:c.1459T>C | XP_005257423.1:p.Tyr487His | |
| XM_005257367.4:c.1495-1444T>C | XP_005257424.1:n.1495-1444T>C | |
| XM_005257368.4:c.1495-1444T>C | XP_005257425.1:n.1495-1444T>C | |
| XM_005257369.4:c.568T>C | XP_005257426.1:p.Tyr190His | |
| XM_005257370.4:c.481T>C | XP_005257427.1:p.Tyr161His | |
| XM_005257371.4:c.394T>C | XP_005257428.1:p.Tyr132His | |
| NM_001203251.2:c.343-1444T>C | NP_001190180.1:n.343-1444T>C | |
| NM_001377265.1:c.1546T>C MANE Select | NP_001364194.1:p.Tyr516His | |
| NM_001377266.1:c.1408-1444T>C | NP_001364195.1:n.1408-1444T>C | |
| NM_001377267.1:c.343-1444T>C | NP_001364196.1:n.343-1444T>C | |
| NM_001377268.1:c.256-1444T>C | NP_001364197.1:n.256-1444T>C | |
| NM_016834.5:c.256-1444T>C | NP_058518.1:n.256-1444T>C | |
| NM_016841.5:c.256-1444T>C | NP_058525.1:n.256-1444T>C | |
| NR_165166.1:n.493-1444T>C | ||
| NM_001123066.4:c.1321T>C | NP_001116538.2:p.Tyr441His | |
| NM_001123067.4:c.343-1444T>C | NP_001116539.1:n.343-1444T>C | |
| NM_001203252.2:c.430-1444T>C | NP_001190181.1:n.430-1444T>C | |
| NM_005910.6:c.430-1444T>C | NP_005901.2:n.430-1444T>C | |
| NM_016835.5:c.1321T>C | NP_058519.3:p.Tyr441His |