Linked Data
ClinVar Variation Id:
141033
ClinVar RCV Id:
RCV000129364
RCV000206206
RCV000216274
RCV000270629
RCV000310315
RCV000362723
RCV000590571
dbSNP Id:
rs2285895
ExAC:
17:29686024 G / A
gnomAD v2:
17-29686024-G-A
gnomAD v3:
17-31359006-G-A
gnomAD v4:
17-31359006-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31359006G>A , CM000679.2:g.31359006G>A | GRCh38 |
| NC_000017.10:g.29686024G>A , CM000679.1:g.29686024G>A | GRCh37 |
| NC_000017.9:g.26710150G>A | NCBI36 |
| NG_009018.1:g.269030G>A , LRG_214:g.269030G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696138.1:c.8133G>A | ENSP00000512431.1:p.Pro2711= | |
| ENST00000684826.1:c.2715G>A | ENSP00000509994.1:p.Pro905= | |
| ENST00000687027.1:c.2307G>A | ENSP00000508715.1:p.Pro769= | |
| ENST00000689464.1:c.1201G>A | ||
| ENST00000691014.1:c.8181G>A | ENSP00000510595.1:p.Pro2727= | |
| ENST00000693617.1:c.2715G>A | ENSP00000510031.1:p.Pro905= | |
| ENST00000358273.9:c.8151G>A MANE Select | ENSP00000351015.4:p.Pro2717= | |
| ENST00000356175.7:c.8088G>A | ENSP00000348498.3:p.Pro2696= | |
| ENST00000358273.8:c.8151G>A | ENSP00000351015.4:p.Pro2717= | |
| ENST00000456735.6:c.7086G>A | ENSP00000389907.2:p.Pro2362= | |
| ENST00000468273.1:c.113G>A | ||
| ENST00000471572.6:c.1534G>A | ||
| ENST00000577967.1:n.3203G>A | ||
| ENST00000579081.5:c.8287G>A | ENSP00000462408.1:n.8287G>A | |
| ENST00000581790.5:c.1136G>A | ||
| NM_000267.3:c.8088G>A , LRG_214t1:c.8088G>A | NP_000258.1:p.Pro2696= | |
| NM_001042492.2:c.8151G>A , LRG_214t2:c.8151G>A | NP_001035957.1:p.Pro2717= | |
| XM_005257983.1:c.8151G>A | XP_005258040.1:p.Pro2717= | |
| XM_005257984.1:c.8088G>A | XP_005258041.1:p.Pro2696= | |
| XM_006721922.1:c.8181G>A | XP_006721985.1:p.Pro2727= | |
| XM_006721923.2:c.8142G>A | XP_006721986.1:p.Pro2714= | |
| XM_006721924.1:c.8181G>A | XP_006721987.1:p.Pro2727= | |
| XM_006721925.1:c.8118G>A | XP_006721988.1:p.Pro2706= | |
| XM_006721926.2:c.8181G>A | XP_006721989.1:p.Pro2727= | |
| XM_006721927.1:c.8181G>A | XP_006721990.1:p.Pro2727= | |
| XM_011524852.1:c.8178G>A | XP_011523154.1:p.Pro2726= | |
| XM_011524853.1:c.8142G>A | XP_011523155.1:p.Pro2714= | |
| XM_011524854.1:c.8142G>A | XP_011523156.1:p.Pro2714= | |
| XM_011524855.1:c.8142G>A | XP_011523157.1:p.Pro2714= | |
| XM_011524856.1:c.8142G>A | XP_011523158.1:p.Pro2714= | |
| XM_011524857.1:c.8058G>A | XP_011523159.1:p.Pro2686= | |
| NM_001042492.3:c.8151G>A MANE Select | NP_001035957.1:p.Pro2717= |