Linked Data
ClinVar Variation Id:
3221
ClinVar RCV Id:
RCV000003376
RCV000003377
RCV000081569
RCV000193219
RCV000515301
RCV000648175
RCV003398429
dbSNP Id:
rs200198778
ExAC:
14:77745107 T / C
gnomAD v2:
14-77745107-T-C
gnomAD v3:
14-77278764-T-C
gnomAD v4:
14-77278764-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77278764T>C , CM000676.2:g.77278764T>C | GRCh38 |
| NC_000014.8:g.77745107T>C , CM000676.1:g.77745107T>C | GRCh37 |
| NC_000014.7:g.76814860T>C | NCBI36 |
| NG_008897.1:g.47119A>G , LRG_844:g.47119A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555134.2:n.922A>G | ||
| ENST00000556394.2:c.1538A>G | ENSP00000451967.2:p.Tyr513Cys | |
| ENST00000682128.1:c.298A>G | ENSP00000506976.1:n.298A>G | |
| ENST00000682247.1:c.1986A>G | ENSP00000507213.1:p.Leu662= | |
| ENST00000682395.1:n.2461A>G | ||
| ENST00000682459.1:n.1700A>G | ||
| ENST00000682467.1:c.1892-256A>G | ENSP00000508062.1:n.1892-256A>G | |
| ENST00000682615.1:n.351A>G | ||
| ENST00000682795.1:c.2144A>G | ENSP00000507574.1:p.Tyr715Cys | |
| ENST00000682895.1:n.1713A>G | ||
| ENST00000682955.1:n.1571A>G | ||
| ENST00000683095.1:c.403A>G | ENSP00000508040.1:n.403A>G | |
| ENST00000683188.1:c.2258A>G | ||
| ENST00000683380.1:n.1661A>G | ||
| ENST00000683907.1:c.262A>G | ENSP00000507754.1:n.262A>G | |
| ENST00000684172.1:c.373A>G | ENSP00000508391.1:n.373A>G | |
| ENST00000684259.1:n.3764A>G | ||
| ENST00000684538.1:n.1376A>G | ||
| ENST00000684549.1:n.1548A>G | ||
| ENST00000261534.9:c.1997A>G MANE Select | ENSP00000261534.4:p.Tyr666Cys | |
| ENST00000261534.8:c.1997A>G | ENSP00000261534.4:p.Tyr666Cys | |
| ENST00000452340.7:n.2973A>G | ||
| ENST00000554767.5:n.2783A>G | ||
| ENST00000555710.1:c.358A>G | ENSP00000451730.1:n.358A>G | |
| ENST00000556394.1:c.88-256A>G | ||
| ENST00000556446.1:n.298A>G | ||
| ENST00000602717.5:c.212A>G | ENSP00000487704.1:p.Tyr71Cys | |
| NM_013382.5:c.1997A>G , LRG_844t1:c.1997A>G | NP_037514.2:p.Tyr666Cys | |
| XM_011536675.1:c.2186A>G | XP_011534977.1:p.Tyr729Cys | |
| XM_011536676.1:c.1853A>G | XP_011534978.1:p.Tyr618Cys | |
| XM_011536677.1:c.1727A>G | XP_011534979.1:p.Tyr576Cys | |
| XM_011536679.1:c.1280A>G | XP_011534981.1:p.Tyr427Cys | |
| XR_943416.1:n.2250A>G | ||
| XM_011536675.2:c.2186A>G | XP_011534977.1:p.Tyr729Cys | |
| XM_011536676.2:c.1853A>G | XP_011534978.1:p.Tyr618Cys | |
| XM_011536677.3:c.1727A>G | XP_011534979.1:p.Tyr576Cys | |
| XR_001750279.1:n.2283A>G | ||
| XR_001750282.1:n.2936A>G | ||
| XR_943416.3:n.2248A>G | ||
| NM_013382.6:c.1997A>G | NP_037514.2:p.Tyr666Cys | |
| NM_013382.7:c.1997A>G MANE Select | NP_037514.2:p.Tyr666Cys |