Linked Data
ClinVar Variation Id:
184261
ClinVar RCV Id:
RCV000163482
RCV000196216
RCV000515434
RCV000599610
RCV001009586
RCV001808436
RCV003462120
RCV004551398
dbSNP Id:
rs786201367
gnomAD v2:
17-29684326-C-T
gnomAD v4:
17-31357308-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31357308C>T , CM000679.2:g.31357308C>T | GRCh38 |
| NC_000017.10:g.29684326C>T , CM000679.1:g.29684326C>T | GRCh37 |
| NC_000017.9:g.26708452C>T | NCBI36 |
| NG_009018.1:g.267332C>T , LRG_214:g.267332C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696138.1:c.7891C>T | ENSP00000512431.1:p.Arg2631Ter | |
| ENST00000684826.1:c.2473C>T | ENSP00000509994.1:p.Arg825Ter | |
| ENST00000687027.1:c.2065C>T | ENSP00000508715.1:p.Arg689Ter | |
| ENST00000687863.1:n.4554C>T | ||
| ENST00000689464.1:c.959C>T | ||
| ENST00000691014.1:c.7939C>T | ENSP00000510595.1:p.Arg2647Ter | |
| ENST00000693617.1:c.2473C>T | ENSP00000510031.1:p.Arg825Ter | |
| ENST00000358273.9:c.7909C>T MANE Select | ENSP00000351015.4:p.Arg2637Ter | |
| ENST00000356175.7:c.7846C>T | ENSP00000348498.3:p.Arg2616Ter | |
| ENST00000358273.8:c.7909C>T | ENSP00000351015.4:p.Arg2637Ter | |
| ENST00000456735.6:c.6844C>T | ENSP00000389907.2:p.Arg2282Ter | |
| ENST00000471572.6:c.1292C>T | ||
| ENST00000577967.1:n.1505C>T | ||
| ENST00000579081.5:c.8045C>T | ENSP00000462408.1:n.8045C>T | |
| ENST00000581790.5:c.894C>T | ||
| NM_000267.3:c.7846C>T , LRG_214t1:c.7846C>T | NP_000258.1:p.Arg2616Ter | |
| NM_001042492.2:c.7909C>T , LRG_214t2:c.7909C>T | NP_001035957.1:p.Arg2637Ter | |
| XM_005257983.1:c.7909C>T | XP_005258040.1:p.Arg2637Ter | |
| XM_005257984.1:c.7846C>T | XP_005258041.1:p.Arg2616Ter | |
| XM_006721922.1:c.7939C>T | XP_006721985.1:p.Arg2647Ter | |
| XM_006721923.2:c.7900C>T | XP_006721986.1:p.Arg2634Ter | |
| XM_006721924.1:c.7939C>T | XP_006721987.1:p.Arg2647Ter | |
| XM_006721925.1:c.7876C>T | XP_006721988.1:p.Arg2626Ter | |
| XM_006721926.2:c.7939C>T | XP_006721989.1:p.Arg2647Ter | |
| XM_006721927.1:c.7939C>T | XP_006721990.1:p.Arg2647Ter | |
| XM_011524852.1:c.7936C>T | XP_011523154.1:p.Arg2646Ter | |
| XM_011524853.1:c.7900C>T | XP_011523155.1:p.Arg2634Ter | |
| XM_011524854.1:c.7900C>T | XP_011523156.1:p.Arg2634Ter | |
| XM_011524855.1:c.7900C>T | XP_011523157.1:p.Arg2634Ter | |
| XM_011524856.1:c.7900C>T | XP_011523158.1:p.Arg2634Ter | |
| XM_011524857.1:c.7816C>T | XP_011523159.1:p.Arg2606Ter | |
| NM_001042492.3:c.7909C>T MANE Select | NP_001035957.1:p.Arg2637Ter |