Linked Data
ClinVar Variation Id:
703915
ClinVar RCV Id:
RCV000873732
dbSNP Id:
rs115381139
ExAC:
17:44101441 T / C
gnomAD v2:
17-44101441-T-C
gnomAD v3:
17-46024075-T-C
gnomAD v4:
17-46024075-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.46024075T>C , CM000679.2:g.46024075T>C | GRCh38 |
| NC_000017.10:g.44101441T>C , CM000679.1:g.44101441T>C | GRCh37 |
| NC_000017.9:g.41457286T>C | NCBI36 |
| NG_007398.1:g.134663T>C | |
| NG_007398.2:g.134613T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420682.7:c.1143T>C | ENSP00000413056.2:p.Asn381= | |
| ENST00000703922.1:c.1143T>C | ENSP00000515557.1:p.Asn381= | |
| ENST00000703923.1:c.1056T>C | ENSP00000515558.1:p.Asn352= | |
| ENST00000703924.1:c.1143T>C | ENSP00000515559.1:p.Asn381= | |
| ENST00000703978.1:c.1230T>C | ENSP00000515600.1:p.Asn410= | |
| ENST00000703980.1:n.456T>C | ||
| ENST00000703981.1:n.414T>C | ||
| ENST00000703982.1:n.648T>C | ||
| ENST00000262410.10:c.2406T>C MANE Select | ENSP00000262410.6:p.Asn802= | |
| ENST00000344290.10:c.2115T>C | ENSP00000340820.6:p.Asn705= | |
| ENST00000351559.10:c.1230T>C | ENSP00000303214.7:p.Asn410= | |
| ENST00000535772.6:c.1050T>C | ENSP00000443028.2:p.Asn350= | |
| ENST00000680542.1:c.1143T>C | ENSP00000505258.1:p.Asn381= | |
| ENST00000680674.1:c.1179T>C | ENSP00000505478.1:p.Asn393= | |
| ENST00000262410.9:c.2181T>C | ENSP00000262410.5:p.Asn727= | |
| ENST00000334239.12:c.963T>C | ENSP00000334886.8:p.Asn321= | |
| ENST00000340799.9:c.1143T>C | ENSP00000340438.5:p.Asn381= | |
| ENST00000344290.9:c.2235T>C | ENSP00000340820.5:p.Asn745= | |
| ENST00000351559.9:c.1230T>C | ENSP00000303214.7:p.Asn410= | |
| ENST00000415613.6:c.2235T>C | ENSP00000410838.2:p.Asn745= | |
| ENST00000420682.6:c.1143T>C | ENSP00000413056.2:p.Asn381= | |
| ENST00000431008.7:c.1137T>C | ENSP00000389250.3:p.Asn379= | |
| ENST00000446361.7:c.1056T>C | ENSP00000408975.3:p.Asn352= | |
| ENST00000535772.5:c.1137T>C | ENSP00000443028.1:p.Asn379= | |
| ENST00000571987.5:c.2181T>C | ENSP00000458742.1:p.Asn727= | |
| ENST00000574436.5:c.1230T>C | ENSP00000460965.1:p.Asn410= | |
| ENST00000576518.1:n.6422T>C | ||
| NM_001123066.3:c.2235T>C | NP_001116538.2:p.Asn745= | |
| NM_001123067.3:c.1143T>C | NP_001116539.1:p.Asn381= | |
| NM_001203251.1:c.1050T>C | NP_001190180.1:p.Asn350= | |
| NM_001203252.1:c.1137T>C | NP_001190181.1:p.Asn379= | |
| NM_005910.5:c.1230T>C | NP_005901.2:p.Asn410= | |
| NM_016834.4:c.1056T>C | NP_058518.1:p.Asn352= | |
| NM_016835.4:c.2181T>C | NP_058519.3:p.Asn727= | |
| NM_016841.4:c.963T>C | NP_058525.1:p.Asn321= | |
| XM_005257362.3:c.2493T>C | XP_005257419.1:p.Asn831= | |
| XM_005257364.3:c.2406T>C | XP_005257421.1:p.Asn802= | |
| XM_005257365.3:c.2400T>C | XP_005257422.1:p.Asn800= | |
| XM_005257366.2:c.2319T>C | XP_005257423.1:p.Asn773= | |
| XM_005257367.3:c.2295T>C | XP_005257424.1:p.Asn765= | |
| XM_005257368.3:c.2202T>C | XP_005257425.1:p.Asn734= | |
| XM_005257369.3:c.1428T>C | XP_005257426.1:p.Asn476= | |
| XM_005257370.3:c.1341T>C | XP_005257427.1:p.Asn447= | |
| XM_005257371.3:c.1254T>C | XP_005257428.1:p.Asn418= | |
| XM_005257362.4:c.2493T>C | XP_005257419.1:p.Asn831= | |
| XM_005257364.4:c.2406T>C | XP_005257421.1:p.Asn802= | |
| XM_005257365.4:c.2400T>C | XP_005257422.1:p.Asn800= | |
| XM_005257366.3:c.2319T>C | XP_005257423.1:p.Asn773= | |
| XM_005257367.4:c.2295T>C | XP_005257424.1:p.Asn765= | |
| XM_005257368.4:c.2202T>C | XP_005257425.1:p.Asn734= | |
| XM_005257369.4:c.1428T>C | XP_005257426.1:p.Asn476= | |
| XM_005257370.4:c.1341T>C | XP_005257427.1:p.Asn447= | |
| XM_005257371.4:c.1254T>C | XP_005257428.1:p.Asn418= | |
| NM_001203251.2:c.1050T>C | NP_001190180.1:p.Asn350= | |
| NM_001377265.1:c.2406T>C MANE Select | NP_001364194.1:p.Asn802= | |
| NM_001377266.1:c.2115T>C | NP_001364195.1:p.Asn705= | |
| NM_001377267.1:c.772-1042T>C | NP_001364196.1:n.772-1042T>C | |
| NM_001377268.1:c.963T>C | NP_001364197.1:p.Asn321= | |
| NM_016834.5:c.1056T>C | NP_058518.1:p.Asn352= | |
| NM_016841.5:c.963T>C | NP_058525.1:p.Asn321= | |
| NR_165166.1:n.1061T>C | ||
| NM_001123066.4:c.2235T>C | NP_001116538.2:p.Asn745= | |
| NM_001123067.4:c.1143T>C | NP_001116539.1:p.Asn381= | |
| NM_001203252.2:c.1137T>C | NP_001190181.1:p.Asn379= | |
| NM_005910.6:c.1230T>C | NP_005901.2:p.Asn410= | |
| NM_016835.5:c.2181T>C | NP_058519.3:p.Asn727= |