Linked Data
ClinVar Variation Id:
391038
dbSNP Id:
rs745804540
ExAC:
17:29508754 T / C
gnomAD v2:
17-29508754-T-C
gnomAD v4:
17-31181736-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31181736T>C , CM000679.2:g.31181736T>C | GRCh38 |
| NC_000017.10:g.29508754T>C , CM000679.1:g.29508754T>C | GRCh37 |
| NC_000017.9:g.26532880T>C | NCBI36 |
| NG_009018.1:g.91760T>C , LRG_214:g.91760T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696138.1:c.681T>C | ENSP00000512431.1:p.Tyr227= | |
| ENST00000686189.1:c.96T>C | ENSP00000509682.1:p.Tyr32= | |
| ENST00000691014.1:c.681T>C | ENSP00000510595.1:p.Tyr227= | |
| ENST00000358273.9:c.681T>C MANE Select | ENSP00000351015.4:p.Tyr227= | |
| ENST00000490416.2:c.261T>C | ENSP00000491431.1:p.Tyr87= | |
| ENST00000356175.7:c.681T>C | ENSP00000348498.3:p.Tyr227= | |
| ENST00000358273.8:c.681T>C | ENSP00000351015.4:p.Tyr227= | |
| ENST00000431387.8:c.681T>C | ENSP00000412921.4:p.Tyr227= | |
| ENST00000487476.5:n.1064T>C | ||
| ENST00000490416.1:n.315T>C | ||
| ENST00000495910.6:c.456T>C | ||
| ENST00000579081.5:c.783T>C | ENSP00000462408.1:p.Tyr261= | |
| NM_000267.3:c.681T>C , LRG_214t1:c.681T>C | NP_000258.1:p.Tyr227= | |
| NM_001042492.2:c.681T>C , LRG_214t2:c.681T>C | NP_001035957.1:p.Tyr227= | |
| NM_001128147.2:c.681T>C | NP_001121619.1:p.Tyr227= | |
| XM_005257983.1:c.681T>C | XP_005258040.1:p.Tyr227= | |
| XM_005257984.1:c.681T>C | XP_005258041.1:p.Tyr227= | |
| XM_006721922.1:c.681T>C | XP_006721985.1:p.Tyr227= | |
| XM_006721923.2:c.642T>C | XP_006721986.1:p.Tyr214= | |
| XM_006721924.1:c.681T>C | XP_006721987.1:p.Tyr227= | |
| XM_006721925.1:c.681T>C | XP_006721988.1:p.Tyr227= | |
| XM_006721926.2:c.681T>C | XP_006721989.1:p.Tyr227= | |
| XM_006721927.1:c.681T>C | XP_006721990.1:p.Tyr227= | |
| XM_006721928.2:c.681T>C | XP_006721991.1:p.Tyr227= | |
| XM_011524852.1:c.681T>C | XP_011523154.1:p.Tyr227= | |
| XM_011524853.1:c.642T>C | XP_011523155.1:p.Tyr214= | |
| XM_011524854.1:c.642T>C | XP_011523156.1:p.Tyr214= | |
| XM_011524855.1:c.642T>C | XP_011523157.1:p.Tyr214= | |
| XM_011524856.1:c.642T>C | XP_011523158.1:p.Tyr214= | |
| XM_011524857.1:c.681T>C | XP_011523159.1:p.Tyr227= | |
| NM_001042492.3:c.681T>C MANE Select | NP_001035957.1:p.Tyr227= | |
| NM_001128147.3:c.681T>C | NP_001121619.1:p.Tyr227= |